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A genetic disorder that leads to abnormally shaped red blood cells

Alpha-1-Antitrypsin Deficiency (AATD) is an inherited genetic condition that can affect the lungs, liver, skin, and blood vessels. Not everyone with AATD develops symptoms, and even people in the same family may be affected differently. What causes AATD? AATD is caused by changes (variants) in the SERPINA1 gene, which normally tells the liver to produce alpha-1-antitrypsin (AAT). AAT protects the lungs from damage caused by enzymes released during inflammation. In AATD: The liver doesn’t produce enough AAT, or Produces abnormally shaped AAT that gets trapped in the liver instead of entering the bloodstream. How AATD affects the body Lungs Low AAT levels allow lung tissue to be damaged, leading to: Emphysema Chronic bronchitis COPD Bronchiectasis Smoking is the biggest risk factor and can cause lung disease to appear 10–15 years earlier. Liver Misfolded AAT protein can build up in the liver, causing: Fibrosis Cirrhosis Liver failure Increased risk of liver cancer Children may show liver symptoms, including prolonged jaundice. Skin (rare) Painful nodules or ulcers (panniculitis) Blood vessels (very rare) Vasculitis causing fever, fatigue, aches, and weight loss Symptoms Symptoms usually begin after age 30, but can occur earlier. Common symptoms include: Shortness of breath, wheezing Chronic cough with mucus Fatigue and poor exercise tolerance Jaundice Unexplained weight loss Swelling of abdomen or legs Genetics and risk AATD is autosomal dominant You inherit one gene from each parent Two abnormal variants = higher disease risk One abnormal variant = carrier (usually no symptoms) Highest-risk genotype: PIZZ Lowest risk: PIMM AATD affects people worldwide but is underdiagnosed, especially outside Northern European populations. Complications Early-onset COPD Liver cirrhosis and liver cancer Skin and vascular inflammation Is there a cure? There is no cure, but early diagnosis allows: Smoking avoidance Lung-protective therapies Monitoring and treatment of liver disease Improved quality of life and normal lifespan in many non-smokers When to consider testing Family history of AATD, COPD, emphysema, or liver disease Lung disease at a young age Unexplained liver disease in adults or children Prevention & management Never smoke or quit immediately Avoid air pollutants and fumes Regular lung and liver monitoring Genetic counseling for family planning Early recognition makes a major difference in long-term outcomes.

Acute kidney injury (AKI) occurs when the kidneys suddenly lose their ability to filter waste products from the blood. As wastes and fluids build up, the body’s chemical balance can become dangerously disrupted. AKI was previously called acute kidney failure and is most common in hospitalized patients, especially those in intensive care. AKI can range from mild to severe. In serious or untreated cases, it can be life-threatening. However, when identified early and managed properly, AKI is often reversible, and many people—especially those who were previously healthy—can recover normal or near-normal kidney function. Symptoms AKI may cause: Reduced urine output Fluid buildup leading to swelling of legs, ankles or feet, and shortness of breath Fatigue and weakness Confusion or mental fog Nausea or loss of appetite Pain in the abdomen or side below the ribs Irregular heartbeat Itching Chest pain or pressure Seizures or coma in severe cases Sometimes AKI causes no noticeable symptoms and is discovered through routine blood tests. When to see a doctor Seek medical attention immediately if you have symptoms suggestive of acute kidney injury. Early diagnosis and treatment are critical to prevent serious complications.