Factor V Deficiency Clinical Presentation

Updated: Mar 09, 2021
  • Author: Olga Kozyreva, MD; Chief Editor: Perumal Thiagarajan, MD  more...
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Presentation

History

Clinical manifestations of factor V deficiency include the following:

  • Bleeding into the skin

  • Excessive bruising with minor injuries

  • Nosebleeds

  • Bleeding gums

  • Excessive menstrual bleeding and prolonged or excessive loss of blood with surgery or trauma

  • Bleeding in mucosal tracts (gastrointestinal, urinary)

  • Hemarthrosis and flexion contracture

  • Bleeding during delivery and postpartum [17]

  • Intracerebral hemorrhages [18, 19]

  • Pulmonary hemorrhage [20]

The severity of bleeding symptoms is only partly related to the degree of factor V deficiency in plasma. Some patients with undetectable plasma levels of factor V experience only relatively mild bleeding. [1]

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Physical

The most common physical findings of factor V deficiency are ecchymoses, bleeding from mucosal surfaces, and pallor secondary to blood loss. Petechiae are uncommon because platelet numbers and function are not affected.

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Causes

Factor V deficiency is caused by a large number of genetic abnormalities. The deficiency is a rare bleeding disorder whose genetic bases have been characterized in only a limited number of cases. [9] The inheritance of factor V deficiency is autosomal recessive, with varying expressivity in the heterozygote; however, other modes of inheritance have been described. Heterozygotes have lowered levels of factor V but probably never bleed abnormally.

Consanguinity has been observed in families with factor V deficiency, related to its autosomal recessive inheritance. Heterozygous deficiency states are generally unrecognized because of a lack of significant clotting time prolongation or bleeding risk.

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