Alpha-1 Antitrypsin Deficiency

What is Alpha-1?

  • Alpha-1 Antitrypsin (AAT) Deficiency (Alpha-1) is a rare genetic (inherited) disorder

  • Characterized by reduced blood and tissue levels of abnormal AAT protein (AAT is a protein synthetized by the liver and which protects the lungs against tissue injury and destruction)
  • May result in the occurrence of lung and/or liver diseases as well as inflammatory conditions in adults (and liver diseases in children)

Common Genetic Variants in Alpha-1 Genes

MM

Normal

  • No altered/defective Alpha-1 genes 
  • No disease

MZ, MS

or other genetic type paired with one M gene

Carries one defective gene (heterozygote)

Mild AAT protein deficiency

Rare development of Alpha-1-related disease

SZ, ZZ, Null Null

or other severe types

Carries two defective genes (homozygote)

Moderate (SZ) to severe (ZZ) AAT protein deficiency

Possible development of Alpha-1-related disease

Clinical Presentation of Alpha-1

Most Common Signs and Symptoms

Lung disease

Shortness of breath, wheezing, chronic cough
Chronic bronchitis, reccurrent pneumonia
COPD, emphysema, bronchiectasies
Asthma, sinus infections

Liver disease

Jaundice (yellowing of the eyes and skin)
Ascite (swelling of the abdomen)
Cirrhosis, gastrointestinal bleeding, liver cancer
 

Skin disease

Necrotizing panniculitis (red skin nodules and painful skin ulcers)
 
 
 

Testing for Alpha-1

Who Should Be Tested ?

Indications for Diagnostic Testing

Diagnostic testing should be considered in patients with :

  • Early-onset emphysema (age of 45 years or less)
  • Emphysema in the absence of a recognized risk factor (smoking, occupational dust exposure)
  • Chronic obstructive pulmonary disease (COPD)
  • Bronchiectasies without evident etiology
  • Asthma with incompletely reversible airflow obstruction after bronchodilator treatment
  • Unexplained liver disease
  • Necrotizing panniculitis
  • Family history of Alpha-1 ; offsprings or parents of patients with Alpha-1 (first-degree collaterals)

Get Tested – How and Where to be Tested ?

Alpha-1 can be detected through the following blood tests :

  • Alphakit® QuickScreen (screening device)
  • Measurement of AAT protein level (blood sampling)
  • Additional specific genetic analysis tests (phenotyping and/or genotyping) can be performed by specialized laboratories

In practice

  • Contact first your physician/general practitioner in order to discuss if testing is appropriate for you
  • If indicated, he can refer you to a pneumonologist or genetic counseling for blood level and genetic tests

Management of Alpha-1

At present, there is no cure available for Alpha-1, but there are treatments and lifestyle options that can slow the progression and improve the condition of Alpha-1-associated illnesses :

General Lifestyle and Preventive Measures

  • Non smoking or smoking cessation
  • Avoid exposure to outdoor and indoor pollution (ozone and dusts) and other environmental or occupational pulmonary- and liver-toxic agents and irritants
  • Avoid alcohol consumption
  • Follow anti-inflammatory nutritional advice
  • Vaccinations against influenza, pneumococcal infection, Hepatitis A and B

Liver Disease

  • Optimal management of liver insufficiency
  • Portal vein decompression
  • Liver transplantation

Lung Disease

  • Optimal management of COPD and emphysema
    • Treatment with bronchodilators and inhaled-corticosteroid medications
    • Pulmonary rehabilitation and supplemental oxygen therapy, if needed
    • Lung-volume reduction or lung transplantation, if required
  • Aggressive and appropriate use of antibiotic treatment for respiratory infections
  • Augmentation Therapy
    • Intravenous administration of partially purified plasma preparation enriched in AAT (obtained from plasma donations)
    • Prescribed in accordance with medical guidelines 

In Practice

Find an Alpha-1 Specialist

Main Expert Centers in Belgium

Dr. Jacques Hutsebaut

Department of Pneumology
Hôpitaux IRIS Sud (HIS)
Rue Jean Paquot, 63 – 1050 Brussels
Phone : +32.2.641.46.05

Dr. Eric Derom

Department of Pneumology
UZ Gent
De Pintelaan 185 – 9000 Gent
Phone : +32.9.332.23.43

Dr. Wim Janssens

Department of Pneumology
UZ Gasthuisberg Leuven
Herestraat, 49 – 3000 Leuven
Phone : +32.16.34.68.03

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