Alpha-1 Antitrypsin Deficiency

Discovered by Carl Bertil Laurell- A1AD is a genetic disorder

. This invention came up in the year 1963 at the University of Lund in Sweden. With the help of Sten Eriksson- a medical resident- who found out the absence of 1 band on protein electrophoresis in almost five samples from 1500 samples. Three from five samples were found affected with emphysema at very young age. Almost after six years, scientist had found out that this deficiency is associated with liver disease.

Acronym of Alpha-1 antitrypsin deficiency- A1AD- usually shows the symptoms and signs of lung ailments between the ages 20 to 50. Wheezing, unable to exercise, difficulty in breathing, and mild activities are the early symptoms of A1AD. Some other signs such as sudden loss in weight, extreme weakness, rapid heartbeats, chronic respiratory infection are also visible in the case of A1AD. Some of the individuals suffering from A1AD are usually found affected with lung disorders such as emphysema. This is mainly caused due to damage in small air sacs in the lungs. The most typical features of emphysema are shortage in breathing, barrel- shaped chest, and whooping cough. Excessive exposure to tobacco smoke or smoking accelerates the occurrence of emphysema symptoms. These symptoms damage the health of lungs.

Approximately 10 percent of toddlers with alpha-1 antitrypsin deficiency cause damage in the health of liver. It disturbs the function of liver, which further causes symptoms of jaundice such as yellowing of skin and whitening of eyes. Almost 15 % of adults with A1AD are affected with cirrhosis- liver disorder- due to development of blemishes on the tissues of liver. Jaundice, swollen abdomen, and inflamed legs or feet are the symptoms of cirrhosis. People affected with alpa-1 antitrypsin deficiency are at higher risk of developing liver cancer- hepatocellular carcinoma.

In certain cases, individuals with A1AD are affected with skin disorder known as panniculitis. This disorder can be noted by toughened skin along with painful clumps or speckles. The intensity of this disorder varies and can appear at any age. This deficiency disorder can be found worldwide although its occurrence diverges according to population. The ratio of this disorder in European descants is 1:1500. You may rarely see this disorder in Asian descents.

Genetic Mutations in the SERPINA1 gene leads to alpha-1 antitrypsin deficiency. This gene gives command to secrete a protein called alpha-1 antitrypsin. This gene protects our body from a strong enzyme known as neutrophil elastase. Neutrophil elastase is liberated from white blood cells to battle against the infection, but sometimes it attacks normal tissues- especially lung cells. If this attack is not controlled by alpha-1 antitrypsin gene, it may cause severe complication.

Even the famous moon walking pop star- Michael Jackson was affected with this deficiency. He was founded with this disorder soon after the release of his album- Thriller. Due to deficiency of alpha- 1 antitrypsin, he was later on discovered with vitiligo- a skin disorder. This disease is caused due to loss of pigmentation in skin cells. Well, it was a great shock for Michael Jackson fans received when he left the world and traveled to heaven in June 2009 at the age of 50.

by: Maria Mcdonald

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