Monday 6 August 2007
Definition: Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinogen, caused by mutations within 1 of the 3 fibrinogen genes.
As hereditary afibrinogenemia, hereditary hypofibrinogenemia is the result of mutation in one or another of the 3 fibrinogen genes, alpha (FGA) (MIM.134820), beta (FGB) (MIM.134830), or gamma (FGG) (MIM.134850).
Complete absence of detectable fibrinogen, true congenital afibrinogenemia, was first demonstrated to be due to a deletion in the FGA gene.
The phenotype has also been associated with missense mutations in the FGB gene that result in impaired fibrinogen secretion and with mutations in the FGG gene.
- chronic hepatitis
- weakly eosinophilic globular cytoplasmic inclusions within the hepatocytes, faintly stained with PAS-diastase, strong immunostaining with human antifibrinogen antibodies.
Rubbia-Brandt L, Neerman-Arbez M, Rougemont AL, Male PJ, Spahr L. Fibrinogen gamma375 arg—>trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis. Am J Surg Pathol. 2006 Jul;30(7):906-11. PMID: #16819336#
Wehinger H, Klinge O, Alexandrakis E, Schurmann J, Witt J, Seydewitz HH. Hereditary hypofibrinogenemia with fibrinogen storage in the liver. Eur J Pediatr. 1983 Dec;141(2):109-12. PMID: #6662138#