Protein S deficiency
Your QuestionWhat is the life-expectancy for individuals with protein S deficiency?
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The most common manifestation is venous thrombosis of the lower extremities (i.e. the legs), and this accounts for approximately 90% of all events associated with protein S deficiency. The other 10% of manifestations include those listed above. The warning signs for a venous thrombosis are generally pain, tenderness, redness, or swelling in extremity or affected areas. Approximately 60-80% of individuals with the inherited form of protein S deficiency will go on to have a venous thrombosis at some point in their life, with the majority occurring before ages 40-45. The remaining 20-40% are considered asymptomatic, meaning that they never go on to develop these clots. For individuals whose lives are shortened by protein S deficiency, the cause of death is a pulmonary embolism, or the passage of a blood clot to the lungs. Symptoms of a pulmonary embolus include difficulty breathing, abnormal coughing, chest pain, fainting or heart palpitations.
The greatest life-theatening risk to patients with protein S deficiency is a pulmonary embolism (PE), a deep vein thrombosis (DVT) that travels through the bloodstream and gets stuck in the lungs. People with hereditary protein S deficiency have about a 2- to 11 times increased risk for developing a DVT or PE in comparison with those without a deficiency. After an extensive search of the resources available to us, we were unable to find information on the average life-expectancy of individuals with protein S deficiency, although it greatly depends on the severity of symptoms.
In rare, severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.
- Congenital protein C or S deficiency. MedlinePlus. February 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000559.htm. Accessed 3/4/2013.
- Goodwin JE. Protein S Deficiency. Medscape Reference. January 2012; http://emedicine.medscape.com/article/205582-overview. Accessed 3/4/2013.
- Lipe B, Ornstein L. Deficiencies of Natural Anticoagulants, Protein C, Protein S, and Antithrombin. Circulation. 2011; http://circ.ahajournals.org/content/124/14/e365.full. Accessed 3/6/2011.
- US National Library of Medicine. Protein S Deficiency. Genetics Home Reference. October 2009; http://ghr.nlm.nih.gov/condition/protein-s-deficiency. Accessed 3/6/2012.