Inherited hypoprothrombinemia

Common Name(s)

Inherited hypoprothrombinemia, Prothrombin deficiency, congenital

Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by {15:Lancellotti and De Cristofaro, 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Inherited hypoprothrombinemia" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Unstable Warfarin
 

Status: Not yet recruiting

Condition Summary: Hypoprothrombinemia

 

Last Updated: 16 Oct 2014

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