Alpha 1 Trypsin Deficiency

Exam Cram

• Alpha-1 anti-tripsin deficiency is an autosomal recessive genetic disease resulting in lung and liver damage

• Presentation: 20-50yrs early onset COPD or liver cirrhosis

• Presentation varies with smoking status and genetic subtype

• Phenotypes: Z- severe disease, S mild disease, M normal

Outline

Background

• Alpha-1 anti-trypsin deficiency is an autosomal recessive genetic disease that results in a reduction of alpha-1 anti-trypsin which protects the body against neutrophil elastase

• Neutrophil elastase causes alveoli destruction

• Phenotypes: Z- severe disease, S mild disease, M normal

Assessment

History

• < 50yrs, mild smoking history

• Progressive shortness of breath, cough, wheeze (COPD)

• Abdominal distension

Examination

• Stigmata of COPD- hyperinflated chest

• Stigmata of liver cirrhosis- hepatomegaly, ascites, palmar erythema

Investigations

• Raised Hb

• Pulmonary function tests: obstructive picture

• Genotyping

Diagnosis

Diagnostic criteria: genotyping

Differentials: causes of COPD or liver cirrhosis

Classification: (severity) as per genotype- 

• SZ, ZZ - COPD & liver fibrosis < 30 years

• SS, MZ only develop COPD is smoke

• MS- largely normal

Management

Acute

• As per acute asthma: steroids, salbutamol, antibiotics if CXR consolidation

Long term

1. Alpha 1 anti-trypsin replacement, smoking cessation

2. Lung or liver transplants

Med Reg Notes

Resources and References

Written in 2025