Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency:

Apha-1 antitrypsin (AAT) also known as serum trypsin inhibitor is a protease inhibitor  that protects tissues from inflammatory cells enzymes. Its main function is to protect lungs and liver from enzymatic damage. In-born genetic defect causes the deficiency of this enzyme leading to lung and liver damage.  Symptoms of the deficiency manifests in symptoms such as COPD, chronic shortness of breath, liver damage and cirrhosis, weight loss and respiratory failure. Treatment is done by replacing the protein or by liver transplant. Most people with the defect do not develop life threatening symptoms. However in some people, cirrhosis, emphysema and liver cancer develop before the age of 40. The disease cannot be cured but can be managed by slowing its progression by preventing environmental/chemical toxins of the liver or lungs such as smoking, toxin/irritant exposure or excessive alcohol use. AAT replacement is done by infusing purified human plasma containing the protein intravenously, a procedure called augmentation therapy. Medical nutrition therapy is tailored to the patient’s symptoms. Managing and preventing weight loss is paramount to reducing mortality and improving prognosis. Nutrition recommendations include providing high caloric diet with less carbohydrates load to reduce CO₂ production that can exacerbate respiratory distress.