Thrombophilic risk of individuals with rare compound @entity5337 and prothrombin XXXX polymorphisms: an international case series of 100 individuals.

@entity5337 @entity1 @entity14553 @entity49 @entity1151 @entity715 @entity1211
UNASSIGNED: The risk of @entity715 in individuals with rare compound @entity49 , homozygous @entity5337 ( @entity5337 ) plus heterozygous prothrombin @entity14553 (PTM), homozygous PTM plus heterozygous @entity5337 , and homozygous @entity5337 plus homozygous PTM, is unknown. We identified, worldwide, individuals with these compound @entity49 , predominantly through mailing members of the International Society on @entity715 and Haemostasis. Physicians were sent a clinical questionnaire. Confirmatory copies of the genetic results were obtained. One hundred individuals were enrolled; 58% were female. Seventy-one individuals had a @entity49 (includes superficial and deep vein @entity715 , and @entity1151 ), 4 had an arterial @entity715 and 6 had both. Nineteen individuals had never had a @entity715 event. @entity715 -free survival curves demonstrated that 50% of individuals had experienced a @entity715 event by 35 yrs of age, while 50% had a first @entity1211 ( @entity1211 ; includes all @entity49 except superficial @entity715 ) by 41 yrs of age; 38.2% of first VTEs were unprovoked. 37% of @entity1 had at least one @entity1211 recurrence. Seventy percent of first pregnancies carried to term and not treated with anticoagulation were @entity715 -free. In conclusion, @entity1 with these rare compound @entity49 are not exceedingly thrombogenic, even though they have a substantial risk for @entity1211 .
