Quality Standard of Care

Quality standard for

alpha-1 antitrypsin deficiency

This patient-centred quality standard was developed with contributions from patients, carers and medical doctors from the United Kingdom and other European countries.

We would like to thank all the contributors for their valuable input into this Quality Standard document.

 

 

Related documents:

UK Strategy for Rare Diseases  

Department of Health 2013
https://www.gov.uk/government/publications/rare-diseases-strategy

An Outcomes Strategy for Chronic Obstructive Pulmonary Disease (COPD) and Asthma in England

Department of Health 2011
https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/216139/dh_128428.pdf

Alpha-1 in the European Union – Expert Recommendations.

Recommendations of the Alpha-1 Expert Group

Initiated and chaired by Members of the European Parliament.
http://www.alphafederation.org/expertrecommendations.htm

EFA Book on Minimal Standards of Care for COPD Patients in Europe

Especially Section 6 – The Special Case of Alpha-1 Patients
http://www.efanet.org/minimum-standards-of-care-for-copd-patients-in-europe

Introduction

The quality standard provides a set of clear statements describing high-quality care within the scope outlined below. It focuses on assessment, diagnosis and the treatment of people with the genetic condition alpha-1 antitrypsin deficiency (AATD) and is based on available evidence and guidelines. It sets out a vision for future services that is likely to require a significant change in emphasis for public health and provider services.

It is intended to improve the quality of care for people with suspected AATD as well as those with a confirmed diagnosis.

At present there are limited health outcome measures that can be used as quality measures. Therefore, the focus is on improving the processes of care that are considered to be linked to health outcomes.

Scope

Assessment, diagnosis and clinical management of alpha-1 antitrypsin deficiency (AATD) in NHS England.

Outcomes

This quality standard describes markers of high-quality, cost-effective care that when delivered collectively should contribute to improving the effectiveness, safety and experience of care for people with AATD in the following ways:

  • Preventing people from dying prematurely.
  • Enhancing quality of life for people with AATD.
  • Helping people to recover from episodes of ill health and ensuring that people have a positive experience of care.
  • Treating and caring for people in a safe environment and protecting them from avoidable harm.

Diversity, equality and language

Good communication between healthcare professionals and people with AATD is essential. Treatment and care, and the information given about it, should be culturally appropriate. It should also be accessible to people with additional needs such as physical, sensory or learning disabilities.

References to the UK Strategy for Rare Diseases

The references to the 51 Commitments stated in the UK Strategy for Rare Disease are marked thus: RDC n where n is the number of the Commitment.  This may be followed by an abbreviated description of the Commitment.  For example, RDC 23 Continue to develop service specifications for rare diseases.

References to the Outcomes Strategy for COPD

The references to the Sections and Paragraphs of the Department of Health Outcomes Strategy for COPD and Asthma  marked thus: OS s or OS s.p where s is the section and p is the paragraph.  This may be followed by an abbreviated description of the outcome.  For example, OS 5.58 The REACT call to action.

Quality Statement 1 – Diagnosis

The following types of patient are recommended to be tested for alpha-1 antitrypsin deficiency (AATD) using appropriate technology, by healthcare professionals competent in its assessment and management:

  • Symptomatic adults with emphysema, chronic obstructive pulmonary disease (COPD), or asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilators.
  • Individuals with unexplained liver disease, including neonates, children, and adults, particularly young adults.
  • Asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors (e.g., cigarette smoking, occupational exposure, FEV1<80% predicted and FEV1/FVS <0.70.)
  • Adults and children with necrotizing panniculitis.
  • Siblings of Alpha-1 patients.

Testing should also be considered in the following:

  • Adults with C-ANCA-positive (anti-proteinase 3-positive) vasculitis
  • Offspring or parents of an individual with homozygous AATD
  • Adults with bronchiectasis without evident aetiology
  • Adolescents with persistent airflow obstruction
  • Asymptomatic individuals with persistent airflow obstruction and no risk factors.

Strategic Commitments

RDC 9 – Continue to work with the UK National Screening Committee.

RDC 10 – Initiate action to ensure carrier testing approved by the appropriate commissioning bodies.

RDC 11 – Work to achieve reduced times for diagnosis of rare diseases.

RDC 12 – Work with the NHS and clinicians to establish appropriate diagnostic pathways.

Quality metric

Structure:

a)     Evidence of local arrangements to ensure that clinical tests for AATD are carried out in the various subgroups

b)    Tests are carried out using calibrated equipment by healthcare professionals competent in its performance and interpretation

Process:

Proportion of people in the various subgroups who have been tested for AATD

  • Numerator – the number of people who have been tested for AATD
  • Denominator – the number of people in the various subgroups recommended for testing for AATD

Implications for stakeholders

Service Providers ensure diagnoses of AATD include a record of one or more indicative symptoms, and are confirmed by serum phenotyping by isoelectric focusing carried out on calibrated equipment by healthcare professionals competent in its performance and interpretation

Healthcare Professionals ensure that people diagnosed with AATD have a record of one or more indicative symptoms and confirmatory serum phenotyping. Those carrying out isoelectric focusing must ensure that the equipment is calibrated and that they are competent in its performance and interpretation.  RDC 15 – Improve education and awareness of rare diseases across the healthcare professions.

Commissioners ensure they commission services that record one or more indicative symptoms when diagnosing AATD, and confirm diagnoses of AATD-related COPD with serum phenotyping by isoelectric focusing carried out on calibrated equipment by healthcare professionals competent in its performance and interpretation.

People with AATD are identified having by of one or more indicative symptoms, and are confirmed by serum phenotyping.

Clinical references

American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency[1]

Definitions

Indicative symptoms include but are not limited to:

  • Respiratory: AATD most commonly presents as an adult-onset respiratory condition. The lack of sufficient levels of AAT leads to lung damage by the proteinase enzymes, especially if combined with the patient smoking, or being exposed to cigarette smoke passively.
  • Patients present with breathlessness and wheeze which can be misdiagnosed as asthma. Smokers will develop COPD between ages 30-45 years, 10-15 years later in non-smokers.
  • AATD should be considered in patients who are breathless and yet have a relatively well preserved FEV1 (>80%) and carbon monoxide diffusion tests should be considered, since those with AATD can have significant emphysematous changes despite having a satisfactory FEV1.
  • Hepatic: AATD can present with a ‘neonatal hepatitis syndrome’, with jaundice, pale stools, hepatomegaly or bleeding. Most will improve, but a small few can progress to cirrhosis and liver failure.
  • Liver disease due to AATD can be overlooked in adults as there are many more common causes of liver disease, such as alcohol induced or hereditary haemochromatosis. It can take many years for the symptoms to develop, but can eventually present with jaundice, hepatomegaly, bleeding and increased risk of hepatoma and hepatocellular carcinoma. The risk of cirrhosis is greatest for men over 50 years of age.

Issues

  1. This statement covers the ‘who’ and ‘how’ but does not imply early diagnosis. This requires physicians who are aware of the condition and a clear protocol for passing the case upwards for testing
  2. Genetic information is highly personal and can be associated with potential psychological and social risks. Accordingly, ensuring the confidentiality of genetic information is an important principle. Regarding social discrimination, there are fears that individuals may suffer from discrimination in relation to health insurance, life insurance, getting mortgages and employment.
  3. Genetic Counselling should be available for people with AATD who are considering having children.
  4. Pre-implantation diagnostic testing should be available for people with AATD.  The Human Fertilisation and Embryology Authority (HFEA) already permits testing where there is a possibility that the offspring would be PiZZ.  Other alleles associated with the deficiency are not considered – PiS, PiMmalton, PiQ0, etc.
  5. A further implication is that the NHS needs clear action plans for the management of rare diseases in general and AATD in particular.
  6. There is no AATD patient registry with a Caldicott Guardian accessible to the UK health services. This form of registry would not be the same as the English AATD research registry which contributes to the Alpha One International Registry (AIR).  RDC 7 – Support patients to register on databases.  RDC 8 – Help patients to contribute to research.  RDC 20 – Assess the potential for Rare Disease databases.  Also RDC 28 through RDC 32.

 

Quality Statement 2 – Management planning

People with AATD have a current individualised comprehensive management plan, which includes high-quality information and educational material about the condition and its management, relevant to the stage of disease.  This includes early recognition of future exacerbations, management strategies (including appropriate provision of antibiotics and corticosteroids for self-treatment at home), genetic counselling, assessment of psychological status and have a named contact.

Strategic Commitments

RDC 5 – Consider how to give all patients clear and timely information.

RDC 6 – Improve access for patients to their personal data.

Quality metric

Structure: Evidence of local arrangements to provide people with AATD-related COPD an individualised comprehensive management plan, which includes high-quality information and educational material about the condition and its management, relevant to the stage of disease.

Process: Proportion of people with AATD-related COPD who have a current individualised comprehensive management plan, which includes high-quality information and educational material about the condition and its management, relevant to the stage of disease.

  • Numerator – the number of people in the denominator who have a current individualised comprehensive management plan, which includes high-quality information and educational material about the condition and its management, relevant to the stage of disease.
  • Denominator – the number of people with AATD-related COPD.

Implications for stakeholders

Service providers ensure systems are in place to provide people with AATD-related COPD individualised comprehensive management plans, and ensure that information and educational material about the condition and its management is of high quality.

Healthcare professionals ensure that people with AATD-related COPD have a current individualised comprehensive management plan, which includes high-quality information and educational material about the condition and its management, relevant to the stage of disease.

Commissioners ensure services are commissioned that provide people with AATD-related COPD with individualised comprehensive management plans, which include high-quality information and educational material about the condition and its management, relevant to the stage of disease.

People with AATD-related COPD have an up-to-date, individually-tailored care plan, which includes information and advice about their condition and how it will be managed, relevant to their stage of the disease.

Clinical references

NICE clinical guideline 101[2].

Issues

  1. As in statement 1, the NHS must have clear policies for the management of rare diseases in general and AATD in particular.
  2. Specific educational support packages will need to be developed for patients with AATD. This should cover a range of topics (see Appendix 1).

 

Quality Statement 3: Inhaled and oral therapies

People with AATD-related respiratory conditions are offered inhaled and oral medications in accordance with national guidelines for people with COPD as part of an individualised comprehensive management plan.

Quality metric

Structure:

a) Evidence of local arrangements to ensure that healthcare professionals prescribing inhaled and oral therapies follow national guidelines.

b) Evidence of local arrangements to ensure that inhaled and oral therapies are prescribed as part of an individualised comprehensive management plan.

Process:

a) Proportion of people with COPD who are offered inhaled and oral therapies in accordance with national guidelines.

  • Numerator – the number of people in the denominator offered inhaled and oral therapies in accordance with national guidelines.
  • Denominator – the number of people with COPD.

b) Proportion of people with COPD who receive their inhaled and oral therapies as part of an individualised comprehensive management plan.

  • Numerator – the number of people in the denominator receiving their inhaled and oral therapies as part of an individualised comprehensive plan.
  • Denominator – the number of people with COPD receiving inhaled and oral therapies.

Implications for stakeholders

Service providers ensure systems are in place to ensure inhaled and oral therapies are offered in accordance with NICE guidance as part of an individualised comprehensive management plan.

Healthcare professionals ensure they offer inhaled and oral therapies in accordance with national guidelines as part of an individualised comprehensive management plan.

Commissioners ensure they commission services that offer inhaled and oral therapies in accordance with national guidelines as part of an individualised comprehensive management plan.

People with COPD are offered medicines taken through the mouth (oral) or breathed in (inhaled) as part of an individually tailored care plan.

Issues

A suggested algorithm for inhaled steroids is given in Appendix 2.

 

Quality Statement 4 – Annual comprehensive assessment

People with AATD have a comprehensive clinical assessment, at least once a year or more frequently if indicated, which includes: degree of breathlessness, frequency of exacerbations, validated measures of health status and prognosis, appropriate vaccination (pneumococcal and influenza), presence of hypoxaemia and liver dysfunction / cirrhosis, panniculitis and osteoporosis.

Quality metric

Structure

a) Evidence of local arrangements to ensure that people with COPD have a comprehensive clinical and psychosocial assessment at least once a year, or more frequently if indicated.

b) Evidence of local arrangements to ensure that clinical and psychosocial assessments include degree of breathlessness, frequency of exacerbations, validated measures of health status and prognosis, presence of hypoxaemia and comorbidities.

Process: Proportion of people with COPD who had a comprehensive clinical and psychosocial assessment in the previous 12 months which includes degree of breathlessness, frequency of exacerbations, validated measures of health status and prognosis, presence of hypoxaemia and comorbidities.

  • Numerator – the number of people in the denominator who had a comprehensive clinical and psychosocial assessment in the previous 12 months which includes degree of breathlessness, frequency of exacerbations, validated measures of health status and prognosis, presence of hypoxaemia and comorbidities.
  • Denominator – the number of people with COPD.

Implications for stakeholders

Service providers ensure systems are in place for the comprehensive clinical and psychosocial assessment of people with AATD at least once a year, or more frequently if indicated. The assessment should include the degree of breathlessness, frequency of exacerbations, validated measures of health status, prognosis, presence of hypoxaemia and abnormal liver function tests and comorbidities.

Healthcare professionals ensure that clinical and psychosocial assessments of people with AATD include degree of breathlessness, frequency of exacerbations, validated measures of health status, prognosis, presence of hypoxaemia and abnormal liver function tests and comorbidities.

Commissioners ensure they commission services that provide clinical and psychosocial assessments at least once a year, or more frequently if indicated, for people with AATD that include degree of breathlessness, frequency of exacerbations, validated measures of health status, prognosis, presence of hypoxaemia and abnormal liver function tests and comorbidities.

People with COPD have a full assessment at least once a year, or more frequently if necessary, which includes measuring breathlessness, frequency of flare-ups, abnormal liver function tests, checking current health and predicting future problems, and checking for other related conditions.

Clinical references

NICE clinical guideline 101 recommendations 1.1.5.1, 1.2.14.2 and 1.2.14.4.[2]

Definitions

People with very severe COPD reviewed in primary care should be reviewed at least twice a year. A comprehensive clinical and psychosocial assessment should include, but is not limited to, the following:

  • body mass index
  • degree of breathlessness (using for example, MRC dyspnoea score)
  • frequency and severity of exacerbations
  • respiratory health status
  • prognosis (using for example, the BODE index, DOSE or ADO index)
  • presence of hypoxaemia and possible need for oxygen therapy
  • presence of comorbidities
  • psychological assessment for anxiety and depression (using for example the Hospital Anxiety and Depression Score [HADS])
  • need for pulmonary rehabilitation
  • need for referral to specialist and therapy services
  • inhaler technique
  • smoking status and desire to quit
  • post-bronchodilator spirometry.

Issues

  1. The focus of this statement is on COPD. However it would seem sensible to include simple liver function tests and liver ultrasound to be performed each year in addition to the respiratory review.  Some of the issues are discussed in Appendix 3.
  2. Further, the statement does not refer to children/adolescents/young adults.

Quality Statement 5 – Smoking cessation support

People with AATD who smoke are regularly encouraged to stop and are offered the full range of evidence-based smoking cessation support.

Quality metric

Structure:

a) Evidence of local arrangements to ensure that people with COPD who smoke are regularly encouraged to stop.

b) Evidence of local arrangements to provide the full range of evidence-based smoking cessation support.

Process: Proportion of people with COPD who smoke who are offered the full range of evidence-based smoking cessation support.

  • Numerator – the number of people with COPD offered the full range of evidence-based smoking cessation support.
  • Denominator – the number of people with COPD who smoke.

Implications for stakeholders

Service providers ensure systems are in place to regularly encourage people with AATD who smoke to stop smoking, and that the full range of evidence-based smoking cessation support is available.

Healthcare professionals ensure they regularly encourage people with AATD who smoke to stop smoking, and offer the full range of evidence-based smoking cessation support.

Commissioners ensure they commission services to provide the full range of evidence-based smoking cessation support.

People with AATD-related COPD who smoke are regularly encouraged to stop and offered support to stop smoking.

Clinical references

NICE clinical guideline 101. [2]

 

Quality Statement 6 – Initial assessment and review of long-term oxygen therapy (LTOT)

People with AATD potentially requiring long-term oxygen therapy are assessed in accordance with national guidelines, at least annually, by a specialist oxygen service as part of the integrated clinical management of their emphysema.  In particular, the oxygen equipment supplied is suitable for the patient’s needs in terms of mobility and carrying capacity.

Quality metric

Structure:

Evidence of local arrangements, to ensure that people with COPD potentially requiring long-term oxygen therapy (LTOT) are assessed in accordance with national guidelines by a specialist oxygen service.

Process: Proportion of people with COPD with oxygen saturation less than or equal to 92% when stable, who are assessed for LTOT in accordance with national guidelines by a specialist oxygen service.

  • Numerator – the number of people in the denominator assessed for LTOT in accordance with national guidelines by a specialist oxygen service.
  • Denominator – the number of people with COPD with oxygen saturation less than or equal to 92% when stable.

It is noted that an assessment for long-term oxygen therapy should be considered in a range of clinical circumstances and not only for people with less than or equal to 92% oxygen saturation when stable (see definitions section). However, to aid measurability, the specific population of those with less than or equal to 92% oxygen saturation when stable has been chosen.

Proportion of people with COPD receiving LTOT, who have had a review in the previous 12 months by a specialist oxygen service in accordance with national guidelines, as part of the integrated clinical management of their COPD.

  • Numerator – the number of people in the denominator reviewed in the previous 12 months by a specialist oxygen service in accordance with national guidelines, as part of the integrated clinical management of their COPD.
  • Denominator – the number of people with COPD receiving LTOT.

Implications for stakeholders

Service providers ensure systems are in place for a specialist oxygen service to assess all people with COPD potentially requiring LTOT in accordance with national guidelines.

Healthcare professionals ensure people with COPD potentially requiring LTOT are referred to a specialist oxygen service for assessment in accordance with national guidelines.

Commissioners ensure they commission a specialist oxygen service to assess people with COPD who potentially require LTOT, in accordance with national guidelines.

People with AATD-related COPD potentially requiring long-term oxygen therapy are assessed by a specialist oxygen service.

Clinical references

NICE clinical guideline 101[2].

Definitions

Criteria for the appropriate assessment for and provision of long-term oxygen therapy for people potentially requiring long-term oxygen therapy are:

  • all patients with very severe airflow obstruction (FEV1 < 30% predicted)
  • patients with cyanosis
  • patients with polycythaemia
  • patients with peripheral oedema
  • patients with a raised jugular venous pressure
  • patients with oxygen saturations  92% breathing air.
  • assessment should also be considered in patients with severe airflow obstruction (FEV1 30-49% predicted).

To ensure all patients eligible for LTOT are identified, pulse oximetry should be available in all healthcare settings. The assessment of patients for LTOT should comprise the measurement of arterial blood gases on two occasions at least 3 weeks apart in patients who have a confident diagnosis of COPD, who are receiving optimum medical management and whose COPD is stable.

Quality Statement 7 –  Pulmonary rehabilitation

People with AATD-related COPD meeting appropriate criteria are offered an effective, timely and accessible multidisciplinary pulmonary rehabilitation programme.

Quality metric

Structure:

  1. Evidence of local arrangements to provide multidisciplinary pulmonary rehabilitation programmes.
  2. Evidence of local arrangements to ensure effectiveness of multidisciplinary pulmonary rehabilitation programmes, by collection and audit of health outcome data.
  3. Evidence of local arrangements to ensure multidisciplinary pulmonary rehabilitation programmes can be accessed in a timely manner.
  4. Evidence of local arrangements to ensure multidisciplinary pulmonary rehabilitation programmes are geographically accessible.

Process: Proportion of people with COPD meeting appropriate criteria who receive an effective, timely and accessible multidisciplinary pulmonary rehabilitation programme.

  • Numerator – the number of people with COPD receiving an effective, timely and accessible multidisciplinary pulmonary rehabilitation programme.
  • Denominator – the number of people with COPD meeting appropriate criteria for pulmonary rehabilitation.

Outcome:

  1. Improvements in exercise capacity as measured by a validated field exercise test, for example the 6-minute walk test or the incremental shuttle walking test.
  2. Improvements in health-related quality of life measured by a validated questionnaire.

Implications for stakeholders

Service providers ensure multidisciplinary pulmonary rehabilitation programmes are timely and accessible, and that health outcomes are monitored to ensure their effectiveness.

Healthcare professionals ensure they offer pulmonary rehabilitation to appropriate people with COPD.

Commissioners ensure they commission timely and accessible multidisciplinary pulmonary rehabilitation programmes, and that health outcomes are monitored to ensure their effectiveness.

People with AATD-related COPD are offered a programme of care, called pulmonary rehabilitation, that is designed for the person with their full involvement to help restore health, if they are likely to benefit from it.

Definitions

NICE clinical guideline states that pulmonary rehabilitation should be offered to all patients who consider themselves functionally disabled by COPD (usually MRC grade 3 and above). This includes those who have had a recent hospitalisation for an acute exacerbation. Pulmonary rehabilitation is not suitable for those who are unable to walk, have unstable angina or who have had a recent myocardial infarction.

Clinical references

NICE clinical guideline 101[2].

Issues

Pulmonary rehabilitation is NOT widely available in all nations of the United Kingdom.

 

Quality Statement 8 – Care in hospital

People admitted to hospital with an exacerbation of AATD-related COPD are cared for by a respiratory or pneumology team, and have access to a specialist-supported discharge scheme with appropriate community support.

Quality metric

Structure:

a) Evidence of local arrangements to ensure people with COPD admitted to hospital with an exacerbation are cared for by a respiratory team.

b) Evidence of local arrangements to provide a specialist early supported discharge scheme, with appropriate community support, for people with COPD admitted to hospital with an exacerbation.

Process:

a) Proportion of people with COPD admitted to hospital with an exacerbation who are cared for by a respiratory team.

  • Numerator – the number of people in the denominator cared for by a respiratory team.
  • Denominator – the number of people with COPD admitted to hospital with an exacerbation.

b) Proportion of people with COPD admitted to hospital with an exacerbation, and who meet the criteria for early supported discharge, who are placed on a specialist early supported discharge scheme with appropriate community support.

  • Numerator – the number of people in the denominator placed on a specialist early supported discharge scheme with appropriate community support.
  • Denominator – the number of people with COPD admitted to hospital with an exacerbation.

Outcome: Reduction in mean length of stay of people admitted to hospital with an exacerbation of COPD.

Implications for stakeholders

Service providers ensure systems are in place to make sure people admitted to hospital with an exacerbation of COPD are cared for by a respiratory team, and have access to a specialist supported discharge scheme with appropriate community support.

Healthcare professionals ensure that people admitted to hospital with an exacerbation of COPD are cared for by a respiratory team and, if they meet appropriate criteria, are placed on a specialist supported discharge scheme with appropriate community support

Commissioners ensure they commission services to make sure people admitted to hospital with an exacerbation of COPD are cared for by a respiratory team, and that there is access to a specialist supported discharge scheme with appropriate community support

People admitted to hospital with a flare-up of COPD are cared for by a respiratory team and are considered for a scheme involving a shorter stay in hospital with extra support at home.

Clinical references

Outcomes Strategy for COPD and Asthma in England [3]

Commissioning services for people with Chronic Obstructive Pulmonary Disease (COPD)[4]

 

Quality Statement 9 – Non-invasive ventilation in hospital

People admitted to hospital with an exacerbation of AATD-related COPD and with persistent acidotic ventilatory failure are promptly assessed for, and receive, non-invasive ventilation (NIV) delivered by appropriately trained staff in a dedicated setting.

Quality metric

Structure:

a) Evidence of local arrangements for the prompt assessment and delivery of non-invasive ventilation (NIV) to people admitted to hospital with an exacerbation of COPD and persistent acidotic ventilatory failure.

b) Evidence of local arrangements to ensure that people admitted to hospital and receiving NIV for an exacerbation of COPD and persistent acidotic ventilatory failure, have NIV delivered by appropriately trained staff in a dedicated setting.

Process:

a) Proportion of people admitted to hospital with an exacerbation of COPD and with persistent acidotic ventilatory failure, who are promptly assessed for NIV, and for whom any subsequent delivery is promptly undertaken.

  • Numerator – the number of people with exacerbations of COPD who are promptly assessed for NIV, and for whom any subsequent delivery is promptly undertaken.
  • Denominator – the number of people admitted to hospital with an exacerbation of COPD and persistent acidotic ventilatory failure.

b) Proportion of people admitted to hospital and receiving NIV for an exacerbation of COPD and persistent acidotic ventilatory failure, who have it delivered by appropriately trained staff in a dedicated setting.

  • Numerator – the number of people in the denominator having NIV delivered by appropriately trained staff in a dedicated setting.
  • Denominator – the number of people admitted to hospital receiving NIV for an exacerbation of COPD and persistent acidotic ventilatory failure.

Outcome:

a) Reduction in hospital mortality rate of patients admitted with an exacerbation of COPD.

b) Reduction in median length of stay of patients admitted with an exacerbation of COPD.

c) Reduction in complications, specifically ventilator-associated pneumonia.

d) Reduction in the need for intubation

Implications for stakeholders

Service providers ensure systems are in place for the prompt assessment and delivery of NIV to people admitted to hospital with an exacerbation of COPD and with persistent acidotic ventilatory failure. Ensure systems are in place for delivering NIV in a dedicated setting by appropriately trained staff.

Healthcare professionals ensure that people admitted to hospital with an exacerbation of COPD and with persistent acidotic ventilatory failure are promptly assessed, and receive NIV delivered by appropriately trained staff in a dedicated setting.

Commissioners ensure they commission services to promptly assess people admitted to hospital with an exacerbation of COPD and with persistent acidotic ventilatory failure for NIV, and deliver it through appropriately trained staff in a dedicated setting.

People admitted to hospital with a flare-up of COPD, who are not getting enough oxygen into their blood and not breathing deeply enough despite having the right type of medicines, are promptly assessed for a treatment called ‘non-invasive ventilation’. This is an emergency treatment given by trained staff in hospital that involves wearing a mask connected to a machine that pumps oxygen into the lungs.

Clinical references

NICE clinical guideline 101[2].

Definitions

A designated setting is one where staff have been specifically trained in NIV. For example intensive care units, high-dependency units, emergency admissions units or dedicated respiratory wards.

Prompt assessment and receipt of NIV should be defined as:

  • assessment and receipt of NIV within 3 hours of presentation, and
  • receipt of NIV within 1 hour of the decision being made to administer NIV.

 

Quality Statement 10 – Palliative care

People with advanced AATD, and their carers, are identified and offered palliative care that addresses physical, social and emotional needs.

Quality metric

Structure:

a) Evidence of local arrangements to ensure that people with advanced COPD, and their carers, are identified and offered palliative care.

b) Evidence of local arrangements to ensure that palliative care is provided for people with advanced COPD and their carers, and addresses physical, social and emotional needs.

Process:

Proportion of people with advanced COPD, and their carers, who receive palliative care that addresses physical, social and emotional needs.

  • Numerator – the number of people in the denominator receiving palliative care that addresses physical, social and emotional needs.
  • Denominator – the number of people with advanced COPD, and their carers, identified as needing palliative care.

Implications for stakeholders

Service providers ensure systems are in place to identify people with advanced AATD and their carers, and offer palliative care that addresses physical, social and emotional needs.

Healthcare professionals ensure they identify people with advanced AATD and their carers, through prognostic indicators and offer palliative care that addresses physical, social and emotional needs.

Commissioners ensure they commission services to provide palliative care to people with advance COPD that addresses physical, social and emotional needs.

People with advanced AATD and their carers are offered palliative care (which is care in the later stages of the disease to make the person as comfortable as possible) that addresses their physical, social and emotional needs.

Definitions

Indicative markers for people who are likely to benefit from palliative care include but are not limited to:

  • severe airflow obstruction (FEV1 <30% predicted)
  • respiratory failure
  • low BMI (less than 19)
  • house bound (MRC dyspnoea score 5)
  • history of two or more admissions for exacerbations during the previous year
  • need for non-invasive ventilation for an acute exacerbation eligibility for long-term home oxygen therapy
  • end-stage liver failure.

Statement 11 – Augmentation therapy

People with AATD should be considered for augmentation therapy, ideally in the community or at least in local hospitals.

Quality metric

Structure:

a) Evidence of that people diagnosed with AATD receive augmentation therapy

b) Evidence that people receiving augmentation therapy are receiving it in the community or local hospitals.

Process:

a) Proportion of people with diagnosed with AATD are receiving augmentation therapy.

  • Numerator – the number of people with AATD receiving augmentation therapy.
  • Denominator – the number of people with AATD.

b) Proportion of people receiving augmentation therapy in the community or local hospitals.

  • Numerator – the number of people with AATD receiving augmentation therapy in the community or local hospitals.
  • Denominator – the number of people with AATD receiving augmentation therapy.

Implications for stakeholders

Service providers ensure systems are in place to ensure augmentation therapies are offered in accordance with national guidelines as part of an individualised comprehensive management plan.

Healthcare professionals ensure they offer augmentation therapies in accordance with national guidelines as part of an individualised comprehensive management plan.

Commissioners ensure they commission services that offer augmentation therapies in accordance with national guidelines as part of an individualised comprehensive management plan.

People with COPD are offered augmentation therapies as part of an individually tailored care plan.

Issues

  1. This presupposes the availability of augmentation therapies.  An available therapy is one with a marketing authorisation.
  2. Clincal Trials: given the slow progress of disease burdens subsequent to AATD, the short duration of the trials and the small sample sizes, the scientific evidence for the effectiveness of augmentation therapy is disputed.  Evidence of the effectiveness of augmentation therapy collected over many years from those countries where the treatment is available is not included in UK HTA procedures.
  3. The number of patients with AATD in the population combined with the expected cost of augmentation therapy may preclude augmentation therapy being generally reimbursed.

 

Appendix 1.

Specific educational packages should be developed for patients with AATD. The packages should take account of the different needs of patients at different stages of their disease.

Suggested topics for inclusion are:

  1. Disease education (Anatomy, physiology, pathology and pharmacology, including oxygen therapy & vaccination)
  2. Dyspnoea/symptom management, including chest clearance techniques
  3. Smoking cessation
  4. Energy conservation/pacing
  5. Nutritional advice
  6. Managing travel
  7. Benefits system and disable parking badges
  8. Advance directives (living wills)
  9. Making a change plan
  10. Anxiety management
  11. Goal setting and rewards
  12. Relaxation
  13. Identifying and changing beliefs about exercise and health related behaviours
  14. Loving relationships/sexuality
  15. Exacerbation management (including when to seek help, self-management and decision making, coping with setbacks and relapses)
  16. Home care support
  17. Managing surgery (non thoracic)
  18. The benefits of physical exercise
  19. Patient support groups

Appendix 2.

Inhaled therapy[2] 

Short-acting beta2 agonists (SABA) and short-acting muscarinic antagonists (SAMA)

Short-acting bronchodilators, as necessary, should be the initial empirical treatment for the relief of breathlessness and exercise limitation.

Inhaled corticosteroids

Oral corticosteroid reversibility tests do not predict response to inhaled corticosteroid therapy and should not be used to identify which patients should be prescribed inhaled corticosteroids.

Be aware of the potential risk of developing side effects (including non-fatal pneumonia) in people with COPD treated with inhaled corticosteroids and be prepared to discuss with patients.

Inhaled combination therapy

This section provides recommendations on the sequence of inhaled therapies for people with stable COPD.

The effectiveness of bronchodilator therapy should not be assessed by lung function alone but should include a variety of other measures such as improvement in symptoms, activities of daily living, exercise capacity, and rapidity of symptom relief.

Offer once-daily long-acting muscarinic antagonist (LAMA) in preference to four-times-daily short-acting muscarinic antagonist (SAMA) to people with stable COPD who remain breathless or have exacerbations despite using short-acting bronchodilators as required, and in whom a decision has been made to commence regular maintenance bronchodilator therapy with a muscarinic antagonist.

In people with stable COPD who remain breathless or have exacerbations despite using short-acting bronchodilators as required, offer the following as maintenance therapy:

o            If FEV1 ≥ 50% predicted: either long-acting beta2 agonist (LABA) or LAMA

o            If FEV1 < 50% predicted: either LABA with an inhaled corticosteroid (ICS) in a combination inhaler, or LAMA.

In people with stable COPD and an FEV1 ≥ 50% who remain breathless or have exacerbations despite maintenance therapy with a LABA:

o            Consider LABA+ICS in a combination inhaler

o            Consider LAMA in addition to LABA where ICS is declined or not tolerated.

Offer LAMA in addition to LABA+ICS to people with COPD who remain breathless or have exacerbations despite taking LABA+ICS, irrespective of their FEV1

Consider LABA+ICS in a combination inhaler in addition to LAMA for people with stable COPD who remain breathless or have exacerbations despite maintenance therapy with LAMA irrespective of their FEV1.

The choice of drug(s) should take into account the person’s symptomatic response and preference, and the drug’s potential to reduce exacerbations, its side effects and cost.

 

Appendix 3.

The American Thoracic Society 2003[1] document pointed out some specific clinical research needs in AAT deficiency-related liver disease. These are shown below.

  • A more detailed description of the pathology of the liver in AAT deficiency-related liver disease is needed, with special emphasis on the early stages and its relationship to both quantitative and qualitative aspects of the polymer status.
  • The high incidence of liver cirrhosis and carcinoma, particularly in the elderly never-smoker reported in Swedish series, needs confirmation in other geographic areas.
  • The recommendations to use simple liver function tests and regular ultrasound examination in follow-up of asymptomatic individuals with AAT deficiency or those with lung disease alone need validation in prospective investigations.
  • The putative interaction of AAT deficiency and chronic viral hepatitis, in particular the role of hepatitis C in heterozygotes, needs further exploration.
  • The efficacy and advisability of vaccination against chronic viral infections, in particular hepatitis C, when a vaccine becomes available, need evaluation.
  • The value and impact of periodic computed tomography scans of the liver in AAT-deficient individuals with resultant cirrhosis need evaluation in prospective studies.

 

Appendix 4.

Smoking cessation[2]

  • An up-to-date smoking history, including pack years smoked (number of cigarettes smoked per day, divided by 20, multiplied by the number of years smoked), should be documented for everyone with COPD.
  • All COPD patents still smoking, regardless of age, should be encouraged to stop, and offered help to do so, at every opportunity.
  • Unless contraindicated, offer NRT, varenicline or bupropion, as appropriate, to people who are planning to stop smoking combined with an appropriate support programmed to optimise smoking quit rates for people with COPD.

The following two recommendations are from ‘Varenicline for smoking cessation’ (NICE technology appraisal guidance 123)[6].

  • Varenicline is recommended within its licensed indications as an option for smokers who have expressed a desire to quit smoking.
  • Varenicline should normally be prescribed only as part of a programme of behavioural support.

 

References

1.              American Thoracic Society / European Respiratory Society, American Thoracic Society / European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency. American Journal of Respiratory and Critical Care Medicine, 2003. 168: p. 818-900.

2.              National Institute for Health and Care Excellence, Chronic obstructive pulmonary disease: Management of chronic obstructive pulmonary disease in adults in primary and secondary care. CG101 2010.

3.              Department of Health Outcomes Strategy for COPD and Asthma in England. 2011.

4.              National Institute for Health and Care Excellence, Commissioning services for people with Chronic Obstructive Pulmonary Disease (COPD). 2011.

5.              Directive 2011/24/EU on patients’ rights in cross-border healthcare, 2011.

6.              National Institute for Health and Care Excellence, Varenicline for smoking cessation. TA 123 2007.