Alpha-1 Antitrypsin Deficiency
ALPHA-1 ANTITRYPSIN DEFICIENCY
- Apha-1 antitrypsin deficiency is an autosomal recessive disorder.
- Alpha- 1 antitrypsin is a serine protease (mainly elastase) inhibitor produced in the liver.
- It produces liver disease (cirrhosis), pulmonary disease (panacinar- emphysema).
- Associated with bronchiestasis, cutaneous paniculitis & Wegner’s granulomatosis.
Pathogenesis–
- Protein folding & accumulation of protein in endoplasmic reticulum.
Histology-
- PAS- positive & diastase resistant cytoplasmic globules in peripheral hepatocytes, Mallory- Denke’s- bodies.
- Alpha- 1 antitrypsin is located on chromosome 14.
- PiMM most common normal phenotype.
- Pizz in homozygote form leading to liver & lung disease is most frequent abnormal phenotype.
- Pulmonary changes- emphysema in smoker’s & non- smoker’s.
- Liver changes- Cirrhosis, hepatoma, heaptocellular carcinoma.
Exam Important
- Apha-1 antitrypsin deficiency is an autosomal recessive disorder.
- Alpha- 1 antitrypsin is a serine protease (mainly elastase) inhibitor produced in the liver.
- It produces liver disease (cirrhosis), pulmonary disease (panacinar- emphysema).
- Associated with bronchiestasis, cutaneous paniculitis & Wegner’s granulomatosis.
Pathogenesis–
- Protein folding & accumulation of protein in endoplasmic reticulum.
Histology-
- PAS- positive & diastase resistant cytoplasmic globules in peripheral hepatocytes, Mallory- Denke’s- bodies.
- Alpha- 1 antitrypsin is located on chromosome 14.
- PiMM most common normal phenotype.
- Pizz in homozygote form leading to liver & lung disease is most frequent abnormal phenotype.
- Pulmonary changes- emphysema in smoker’s & non- smoker’s.
- Liver changes- Cirrhosis, hepatoma, heaptocellular carcinoma.
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