A presentation By Abedelaziz Taha Hammash supervisor \ Mr. Wael Al- laithy

1. A presentation ByAbedelazizTahaHammashsupervisor \Mr. Wael Al-laithy Case Study

2. Case Study • A 42 years old woman presented with chronic cough, excessive production of mucus and shortness of breath. • Upon exercising, she started to hyperventilate and her tolerance seemed to be decreasing. She often suffered from dizziness and anxiety. There was also an abnormal weight loss and her fingers used to turn blue or grey. On examining the blood sample, AAT was 56 mg/dl (low).

3. The case is Alpha 1 antitrypsin deficiency

4. Introduction • Alpha 1 antitrypsin is also known as alpha 1 antiprotienase. • Single polypeptide chain having 394 amino acids. • Molecular weight of 450000 • Normal level = 75-200 mg/dl. • Serine protease inhibitor. • Inhibit the action of elastase, trypsin, and other proteins

5. Clinical significance • Increases during: • Inflammation (an acute phase protein). • Contraceptive use. • Pregnancy.

6. Decreases in: • Nephrotic syndrome. • Emphysema • Liver cirrhosis

7. Diagnosis • AAT blood test • Lung function test • Chest x-ray

8. Emphysema • About 5% of emphysema cases are due to alpha 1 antitrypsin deficiency. • Any bacterial infection in lungs attracts macrophages that release elastase. • In normal health, alpha 1 antitrypsin protects the lung from injury by binding with the active elastase, making it inactive.

9. However in alpha 1 antitrypsin deficiency, there is unopposed action of the active elastase leading to serious lung tissue damage through proteolysis.

10. Treatment • Bronchodilators: relieve coughing. • Inhaled steroids • Antibiotics (for respiratory tract infections). • Lung transplant- in sever cases. • Quit smoking (risk factor).

11. Thank you 