What is the morbidity associated with VTE in protein C deficiency?

Updated: Jan 04, 2019
  • Author: Shamudheen Rafiyath, MD; Chief Editor: Perumal Thiagarajan, MD  more...
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Answer

The cardinal clinical manifestation of heterozygous protein C deficiency is VTE. The risk of VTE in this population is roughly seven-fold higher than that of the general population. [20, 21] Approximately 40% of patients with VTE have one of the usual thrombotic risk factors, such as pregnancy, the postpartum state, hormonal therapy, surgery, or immobilization. [22] The remaining 60% present with unprovoked VTE.

The most common sites of thrombosis are the deep veins of the lower extremities, although an elevated risk of mesenteric vein and cerebral sinus thrombosis is also well-documented. [23, 24, 25] Approximately 40% of patients with protein C deficiency present with evidence of pulmonary embolism, and roughly 60% suffer recurrent thrombosis if anticoagulation is discontinued. [22]

The risk of VTE increases with age and, among heterozygotes, thrombosis is unusual before age 20 years. Rare homozygotes and compound heterozygotes who do not manifest NPF in infancy may present with VTE later in childhood or adolescence. [26]


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