SNP Shot: Genomic Insights

Thrombotic thrombocytopenic purpura (TTP) is a rare condition characterized by the formation of blood clots (thrombi) in small blood vessels throughout the body. These clots can obstruct blood flow to vital organs like the brain, kidneys, and heart, leading to serious health issues. Potential complications include neurological problems (e.g., personality changes, headaches, confusion, slurred speech), fever, impaired kidney function, abdominal pain, and heart problems.

Normally, blood clots form to stop bleeding after a blood vessel injury. However, in individuals with TTP, clots develop even without any apparent injury. These clots are made of platelets, cells that circulate in the blood and aid in clotting. The excessive clot formation in TTP consumes a large number of platelets, resulting in a shortage of platelets in the bloodstream, a condition called thrombocytopenia. Thrombocytopenia can cause small areas of bleeding under the skin, resulting in purplish spots known as purpura.

TTP also leads to premature destruction of red blood cells (hemolysis). As red blood cells are forced through the blood vessels obstructed by clots, they can rupture. This destruction leads to hemolytic anemia, where red blood cells are destroyed faster than the body can replace them. Hemolytic anemia causes symptoms such as paleness, yellowing of the skin and eyes (jaundice), fatigue, shortness of breath, and a rapid heartbeat.

There are two main types of TTP: an acquired (non-inherited) form and a familial (inherited) form. The acquired form usually manifests in late childhood or adulthood. Affected individuals may experience a single episode of symptoms or, more commonly, recurrent episodes over time. The familial form is much less common and typically presents in infancy or early childhood, although it can appear later in life. In people with the familial form, symptoms often recur regularly and may be triggered by stressful events, such as illness or pregnancy.

Inheritance:

The familial form of TTP follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The parents, who each carry one copy of the mutated gene, usually do not exhibit any signs or symptoms of the condition. The acquired form of TTP is not inherited.