Congenital fibrinogen deficiency

Overview

Type of disease: Rare conditions

Congenital fibrinogen deficiency is a rare birth condition in which the body either lacks fibrinogen (a protein that helps blood clots form) or has fibrinogen that doesn’t work properly. Congenital means that it is present from birth (though it may not be diagnosed until later). There are three forms of this condition which is characterized by mild to severe bleeding. Two forms of the deficiency, afibrinogenemia (the rarest form, caused by a complete lack of fibrinogen) and hypofibrinogenemia (less than normal amount of fibrinogen) are due to not having enough of this protein in the blood. A third form called dysfibrinogenemia is caused by fibrinogen that is present, but isn’t working properly. Common bleeding issues include: umbilical cord bleeding, gastrointestinal bleeding, nose bleeds (epistaxis), bleeding into joint spaces (hemarthrosis), abnormally heavy menstrual periods (menorrhagia), traumatic or surgical bleeding, and bleeding in the brain (intracranial hemorrhage).

Afibrinogenemia is often discovered in the newborn period or early childhood and these individuals have frequent and severe spontaneous bleeding (bleeding that occurs without any injury or trauma). Most people with hypofibrinogenemia have almost no symptoms but may bleed more than usual after a trauma (for example: surgery, childbirth or injury). Dysfibrinogenemia is associated with both spontaneous bleeding and higher than usual risk of thrombosis (dangerous blood clot). Fibrinogen deficiency equally affects both men and women and can be discovered at any age, but usually presents in early childhood. This condition affects around 1 in 1,000,000 (one million) people. Diagnosis and treatment both vary on a case-by-case basis and depend on the type of fibrinogen deficiency, but the outlook for all types is good when diagnosed early and with proper treatment.

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