Alpha-1-Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is a genetic disorder that can cause lung disease in adults and liver disease in adults and children. About 1 in 2,500 individuals has alpha-1 antitrypsin deficiency; it occurs most frequently in whites of European ancestry.

Signs and symptoms

The first signs of lung disease usually appear between ages 20 and 40. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Chronic obstructive pulmonary disease (COPD) follows. Other symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, a barrel-shaped chest, rapid heartbeat upon standing, and vision abnormalities. Liver disease, cirrhosis, occurs in about 15% of cases. Smoking or exposure to tobacco smoke make symptoms worse and damages the lungs. About 10 percent of affected infants may show signs of the disease. Neonatal jaundice or choestasis (stopage of bile flow) can occur in newborns. In rare cases, alpha-1 antitrypsin deficiency also causes a skin condition known as panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.

Genetics

Mutations in the Pi gene on chromosome 14q32.1 cause alpha-1 antitrypsin deficiency. The Pi gene produces a protein called alpha-1 antitrypsin, which protects the body from being damaged by a powerful enzyme contained in white blood cells. Mutations in the Pi gene can result in a missing alpha-1 antitrypsin protein or non-working protein that cannot control the enzyme. The abnormal protein can also accumulate in the liver and may damage it. This condition is inherited in an autosomal codominant pattern. Codominance means that two different versions of the gene may be expressed, and both versions contribute to the genetic trait. The most common version (allele), called M, makes normal alpha-1 antitrypsin protein. Most people have two copies of the M allele (MM), one from each parent. Two altered versions that produce lower levels of alpha-1 antitrypsin are called S and Z, respectively. Individuals with two copies of an altered allele (ZZ or SZ) are likely to develop alpha-1 antitrypsin deficiency. Smoking makes symptoms worse and start earlier in life.

External links

category:Genetic disorders

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