genetic diseases of fibrinogen
Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenemia and afibrinogenemia) or the quality of the circulating fibrinogen (dysfibrinogenemia).
The 3 genes coding for fibrinogen γ (FGG), α (FGA) and β (FGB) are clustered in a region of approximately 50 kb on human chromosome 4 (q28-q31).
Numerous missense mutations in the 3 fibrinogen genes have been identified in patients with dysfibrinogenemia, associated with bleeding and thrombosis, and over 400 abnormal fibrinogens have been reported, with some 90 structural defects identified.
Types
hereditary afibrinogenemia
hereditary hypofibrinogenemia
Synopsis
- intrahepatocytic fibrinogen inclusions
cirrhosis
hypofibrinogenemia
hepatic endoplasmic reticulum storage disease
Morphological differential diagnosis
- Lafora bodies
- glycogen storage disease type 4 (GSD4 or amylopectinosis)