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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Protein S deficiency


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Your Question

What is the life-expectancy for individuals with protein S deficiency?

Our Answer

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What complications may be associated with protein S deficiency?

The following complications may arise due to protein S deficiency:

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.[1][2]

Last updated: 3/7/2012

What is the life-expectancy of individuls with protein S deficiency?    

Although associated with an increased risk for forming blood clots, many people with protein S deficiency will never have complications.[3] For those with symptoms, the outcome is usually good with treatment, but symptoms may return.

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.[3]  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.[4] 
Last updated: 3/7/2012

References