Alpha -1 antitrypsin deficiency


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Case studies of Alpha-1-antitrypsin deficiency

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Alpha -1 antitrypsin deficiency

  1. 1. Selected for publication in student’scorner Biochemistry for Medics
  2. 2. Case studies of α -1antitrypsin deficiency Niveshnee D. Kodai Roll Num 39
  3. 3. • Introduction• Functions• Case study- Emphysema• Diagnosis and treatment• Case study- Juvenile cirrhosis
  4. 4. Plasma proteins albumin globulin fibrinogen α1 α2 β1 β2 γ AcidglycoproteinAntitrypsinFetoprotein Globulin
  5. 5. • Also known as α1- antiproteinase.• Single polypeptide chain having 394 amino acids.• Molecular weight of 450 000• Isoelectric pH of 4• Normal level = 75- 200 mg/dL
  6. 6. • Serine protease inhibitor.• Inhibit the action of elastase, trypsin and other proteases.• Tumour marker of testis and ovaries.• Inhibits fibrinolysis.
  7. 7. • Increases during:1) Inflammation- an acute phase protein2) Chronic hepatocellular diseases3) Biliary tract obstruction4) Pregnancy
  8. 8. • Decreases in1) Nephrotic syndrome2) Emphysema3) Liver cirrhosis
  9. 9. A 42 year old woman presented with chroniccough, excessive production of mucus andshortness of breath.Upon exercising, she started to hyperventilateand her tolerance seemed to be decreasing. Sheoften suffered from dizziness and anxiety. Therewas also an abnormal weight loss and herfingers used to turn blue or grey. On examiningthe blood sample, there was a low level of AAT.What is the diagnosis?
  10. 10. About 5% of emphysema cases are due to α- 1antitrypsin deficiency. Patients with zz genotypehaving less protein are more susceptible to thisdeficiency.Any bacterial infection in lungs attractsmacrophages that release elastase.In normal health, α- 1 antitrypsin protects the lungtissues from injury by binding with the activeelastase, making it inactive.However in α- 1 antitrypsin deficiency, there isunopposed action of the active elastase leading toserious lung tissue damage through proteolysis.This condition whereby most of the elastin
  11. 11. Healthy Unoppose lungs d action of No Active elastase tissue elastase damage α1 More antitrypsi proteolysis n def No α1proteolysis antitrypsi n More Unhealthy tissue Inactive lung damag elastase e
  12. 12. • Spirometer Breath Test: to know the different stagesof emphysema• AAT blood test• Lung function test• Chest x-ray
  13. 13.  Bronchodilators: relieve coughing Inhaled steroids Oxygen therapy Antibiotics- for respiratory infections. Lung transplant-in severe cases Quit smoking
  14. 14.  Smoking is the most important risk factor for emphysema. When a person inhales tobacco smoke, it damages the air sacs in the lungs. Eventually, the lungs lose their functions resulting in emphysema. Toxic substances are discharged from tobacco smoke which enter the air sacs of the lungs. These toxic substances damage the walls of the air sacs. People who smoke 20 or more cigarettes per day suffer from emphysema. Smokers are 6 times more likely to develop emphysema than non-smokers. Smoking causes 82% of emphysema among males and 76% among females.
  15. 15.  Smoking oxidises methionine to methionine sulfoxide at 358 th position. Hence it deactivates AAT and causes tissue damage, resulting in EMPHYSEMA. Damage from emphysema is irreversible. Nevertheless giving up smoking is quite beneficial.
  16. 16. A 15 year-old female presented with itching,weakness, fatigue, and loss of appetite. She wasfound to be having a low serum albuminconcentration, together with a marked increase inthe concentration of Alanine amino Transferase( ALT) and Aspartate Transferase (AST). Serum total Bilirubin concentration was also foundto be higher, the patient apparently hadJaundice.What is the diagnosis?
  17. 17.  The patient is suffering from Juvenile hepatic cirrhosis The piZ molecule accumulates in the cisternae of endoplasmic reticulum of the hepatocytes. Thus they are unable to release AAT leading to the cirrhosis of liver.
  18. 18. Imaging Tests  Magnetic resonance imaging (MRI),  computed tomography (CT), and ultrasound liver biopsy
  19. 19. Treatment of cirrhosis includes  1) preventing further damage to the liver,  2) treating the complications of cirrhosis,  3) preventing liver cancer or detecting it early  4) liver transplantation.
  20. 20. α1 antitrypsin Activity of deficiency elastase Emphysema Hepatic Smoking cirrhosis
  21. 21. • Class notes• Biochemistry for medics• Internet
  22. 22. Thankyou…