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Explore a detailed case study of a 42-year-old woman with chronic cough, shortness of breath, and weight loss, diagnosed with Alpha-1 Antitrypsin Deficiency. Learn about the diagnosis, clinical significance, and treatment options.
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A presentation ByAbedelazizTahaHammashsupervisor \Mr. Wael Al-laithy Case Study
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).
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
Clinical significance • Increases during: • Inflammation (an acute phase protein). • Contraceptive use. • Pregnancy.
Decreases in: • Nephrotic syndrome. • Emphysema • Liver cirrhosis
Diagnosis • AAT blood test • Lung function test • Chest x-ray
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.
However in alpha 1 antitrypsin deficiency, there is unopposed action of the active elastase leading to serious lung tissue damage through proteolysis.
Treatment • Bronchodilators: relieve coughing. • Inhaled steroids • Antibiotics (for respiratory tract infections). • Lung transplant- in sever cases. • Quit smoking (risk factor).
