Thrombophilia due to autosomal recessive protein s deficiency (THPH6) is a genetic disease that causes clotting issues in the blood. Protein s is a component of the blood that is an anticoagulant, which means it helps the blood to flow throughout the body without clotting. If there is an absence or deficiency of protein s, the blood clots too quickly and too easily, leading to a dangerous obstruction of blood flow. In most cases of the disease, deep vein thrombosis of the lower limbs (clots in the leg) are frequent.
THPH6 usually begins in early infancy, but in some cases the symptoms appear later in childhood. In infancy, purpura fulminans can occur, which are blood spots and bruising of the skin due to coagulation (blood clotting) in small blood vessels.
Treatment for THPH6 includes receiving fresh plasma in order to replace the protein s in the blood. Fresh plasma is used most commonly for treating infants with the disease. Surgeries to remove the blood clots are also common because one of the biggest risks with THPH6 is that a clot will travel to the lungs (this is called a pulmonary embolism). This is dangerous because embolisms can block arteries.
Medication for anticoagulation is usually part of treatment in order to improve blood flow and reduce thrombosis (clotting). For individuals who have a family history of THPH6, there are certain preventative measures that can be taken to reduce harmful effects during infancy.If you have been diagnosed with this condition, talk to your doctor about the the best treatment options for you.
Description Last Updated: Jan 15, 2018