Protein S deficiency is a rare inherited or acquired disorder that increases the risk of blood clots, leading to conditions such as stroke and pulmonary embolism. There are different types of the disease, and symptoms may not appear until a blood clot occurs. Treatment typically involves anticoagulant medication, and the condition can be induced by factors such as warfarin, pregnancy, and birth control pills. In severe cases, it can cause purpura fulminans in newborns.
Protein S deficiency is usually an inherited disorder, although it can also be acquired, which affects the body’s ability to prevent blood from clotting in abnormal patterns. This is a very rare disease that, without treatment, can be very dangerous. It can put people at much higher risk of thrombosis, or blood clots. This shift raises the risk of stroke and conditions such as pulmonary embolism (a blockage of a pulmonary artery). The disease is often manageable when diagnosed, but it is rare and may not be diagnosed until a first incident of a blood clot, unless the family history of the disease is very evident and clearly known.
There are several different types of protein S deficiency, which can affect the degree to which the condition is expressed. These are called Types I, II and III or alternatively Types I, IIa and IIb. Protein S, which helps protein C work, has two different forms in the body called free and bound forms; the disease is expressed mainly by what the free forms can do. For example, in Type I the free S is not present in high enough amounts to help C, in Type II the free S is not built correctly and cannot do its job at all, and in Type III the amount of free S is too low. The difference between Type I and III is that in Type I, the S binding is also too low, but it is available in normal amounts in Type III.
As stated above, protein S deficiency is rare and one may not think of looking for it unless some conditions such as blood clotting begin, often in the form of diseases such as deep vein thrombosis (DVT). The first symptoms could be a blood clot, and this can happen as early as your 20s. Before then, people may have no symptoms and not notice anything different.
Once protein S deficiency is diagnosed, the course of treatment is usually very clear. Most people take anticoagulant medicines. The obvious choice for this is warfarin (Coumadin and reg). Warfarin levels must be managed carefully. Other medications may be more appropriate during pregnancy, a common time when this condition can be diagnosed. There are women who have this condition and can, with skillful management, have children, although there may be a high risk.
Although this condition may be more common in hereditary form, people can have this deficiency induced by a variety of factors. Warfarin, the same drug used to prevent clotting, sometimes causes lower levels of protein S. Pregnancy, birth control pills, and estrogen therapy also lower levels of S. On the inherited side, there is a severe form of protein S deficiency, which can occur when people inherit two faulty protein S genes from their parents. This can cause a condition called purpura fulminans, which is easy to diagnose in the newborn, as it creates severe illness in babies and will lead to death without immediate treatment.
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