Alpha 1 Antitrypsin Deficiency Service

You have been referred into clinic as you have been identified as having alpha-1-antitrypsin deficiency.

This is a genetic condition that has many different types and may affect your lungs and/or liver. Some types of alpha 1 antitrypsin deficiency are mild and cause no problems to your liver or lungs. Others can be more severe, so it is important that you have a specialist review to establish the type of alpha 1 antitrypsin you have. You will receive a British Lung Foundation (British Lung Foundation (opens in a new tab)) leaflet on alpha-1-antitrypsin deficiency that will explain this condition further.

The disease can affect different people in different ways and patients will need monitoring of their lungs and liver depending on their level of symptoms and disease.

Symptoms of lung disease may include:

• Breathlessness at rest or on exertion
• Cough +/- sputum production
• Regular chest infections requiring antibiotics

Symptoms of liver disease may include:

• Jaundice (yellowing of skin and eyes)
• Build-up of fluid in abdomen or legs
• Fatigue
• Weight loss
• Pale or very dark stools
• Dark urine
• Itching
• Pain over liver area

Initial assessment

Your initial review will be a telephone consultation with a Clinical Nurse Specialist who specialises in alpha-1-antitrypsin deficiency.

During the telephone consultation, the nurse will discuss your diagnosis and any current symptoms. You will also be asked about family history and to identify if any family members are eligible for screening.

If other family members are identified as requiring screening, this can be done by a blood test at their GP surgery and a letter will be sent to yourself with further instructions on how to do this. Results are analysed and normally sent within 2 weeks. This will determine whether there is a requirement for further testing.

If you have no symptoms of lung or liver damage you will receive advice on lifestyle changes you may need to make that will help to keep you well.

These lifestyle changes may include:

• Giving up smoking
• Regular exercise
• Maintaining a healthy diet
• Reducing alcohol intake
• Optimising weight

If you do have any respiratory or hepatology symptoms and lung or liver damage you will be given specialist advice, as well as the information above which may include advice on:

• Breathlessness management
• Self-management
• Medication
• Other treatment options such as lung volume reduction and lung or liver transplant

Referrals to other specialist services to help with your condition may also be made such as:

• Respiratory physiotherapists
• Pulmonary rehabilitation classes
• Community respiratory nurse teams
• Breathlessness intervention service
• British Liver Trust (British Liver Trust (opens in a new tab))

Following the initial telephone consultation, the nurse will discuss your current symptoms (if any) and your family history with the consultant who specialises in alpha 1 antitrypsin deficiency.

Further testing may be required to look at how well your lungs and liver are working before a follow up with the consultant is made. This may be via telephone or face to face in clinic.

These tests may include:

Chest X-ray

This test is used to take a picture of the inside of your lungs.

Lung function tests

These are a variety of tests that are used to assess the size of your lungs, how well you

can breathe in and blow out air, and how efficiently your lungs are able to exchange gases such as oxygen and carbon dioxide.

Bloods tests

These will be taken to ensure that you do not have an infection and that all of your organs, such as the liver, are working properly and to look at how well your immune system is working.

Fibroscan

This is an ultrasound test which can measure how stiff your liver is.

Sometimes you may also be required to have other tests arranged such as:

A Computerised Tomography (CT) scan

This is a test using X-rays and a computer and enables us to get a cross sectional picture of the inside of your lungs or liver.

A perfusion scan

This is a test that assesses how well the air and blood are flowing through your lungs.

A liver ultrasound

This test uses high frequency sound waves to show up changes in the liver.

Follow-up assessment

• All patients will have a 12 month follow up within the respiratory service.
• If you are identified as having any respiratory symptoms or conditions, you may have more frequent follow up arranged.
• All patients will have at least one review with a liver specialist who specialises in alpha-1-antitrypsin deficiency. Any further liver follow up will be coordinated jointly with the respiratory department.

Research

There may be potential studies looking at the alpha 1 antitrypsin deficiency. You will be asked at your initial telephone consultation if you are willing to be contacted by the respiratory research team to discuss any research project that you may be eligible for.

Contact details

Janine Doughty - Lead respiratory clinical nurse specialist

Libby Torres – Respiratory clinical nurse specialist

Gill Attmore – Respiratory team administrator

Direct line: 01223 216647