Lung and Pulmonary Disease

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Hereditary lung diseases can affect lungs, liver and/or skin. Common disorders are alpha-1-antitrypsin (AAT), cystic fibrosis (CF), interstitial lung disease, pulmonary alveolar microlithiasis and pulmonary arterial hypertension (PAH).

AAT deficiency can result in destruction of sensitive lung tissue. Symptoms can appear early in life, but many will develop at middle-age, including shortness of breath, excessive cough, wheezing, decrease in exercise capacity and chest pain that increases when breathing in. Additionally, the liver can be affected by AAT deficiency.

Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices and causes severe damage to the lungs, digestive system and other organs in the body. Symptoms include chronic pulmonary symptoms and gastrointestinal symptoms but also male infertility.

Pulmonary arterial hypertension is a condition of increased blood pressure within the arteries of the lungs. PAH may be associated with other diseases, such as connective tissue diseases, HIV infection or liver disease. The symptoms are mostly non-specific such as fatigue, exhaustion and difficulty exercising. Early identification of individuals at risk can help establish the right clinical management

plan.