Progeria

Progeria is a genetic condition also known as Hutchinson-Gilford Progeria Syndrome (HGPS) that affects children. Although it is a rare disease, Progeria not only results in rapid aging but is also fatal. It resembles healthy human aging but manifests in young children. Only 1 in every 4 to 8 million newly born children is affected by Progeria.

Signs and Symptoms

A child that is born with Progeria appears healthy and normal. When the child reaches his 10th month up to 24th month, his features become that of a matured person. Progeria is characterized by slow growth during his first years of life, small face structure, narrow jaw, lack of body fat, total hair loss including the eyelashes and eyebrows, wrinkly skin, and delay of teeth development. A child with Progeria has a short stature, and the size of his head is not proportioned to the size of his face. He has prominent eyes, protruding ears, thin lips, and small chin.

Causes

The cause of Progeria is the mutation in the LMNA gene. The LMNA gene is responsible for the production of the lamin A protein. This kind of protein determines the shape of the nucleus within cells. The mutation of the LMNA gene results to the abnormal production of lamin A protein. The abnormal protein results to unstable nuclear envelope that continuously damages the nucleus. The damage in the nucleus results to prematurely dying of cells. 

Diagnosis

Genetic testing is done to see the changes in the gene that causes Progeria, or the LMNA. Doctors conduct laboratory tests and medical exams to test the child’s resistance to insulin, normal cholesterol levels, and triglyceride levels. To see signs of early atherosclerosis of blood vessels, a cardiac stress test is also performed.

Complications, Prognosis, and Treatment

Heart attack and stroke are the possible complications of Progeria which starts to manifest at the age of 13. Because of this, those who have Progeria have a short life span, averaging to just thirteen to twenty years. There is no treatment for Progeria. However, aspirin is usually given to prevent heart attack, stroke, and other cardiovascular diseases.

Prevention

As of date, there is still no known type of prevention for this very rare condition. However, there are drugs that are given to Progeria patients to prevent or delay the complications. Apart from aspirin that to prevent stroke and heart attack, other medications are given such as statins and anticoagulants. Statins lowers the cholesterol while anticoagulants prevent blood clot.