Skeletal changes in congenital fibrinogen abnormalities.
We report an anatomico-radiologic study of humerus, femur, and tibia from a case of total congenital afibrinogenemia. Juxtatrabecular hemorrhages occur mainly in metaphyses and seem to be related to normal lines of stress. They may lead to the formation of intraosseous cysts and to a remodelling of bone trabeculae. The radiologic lesions in a second case, diagnosed as congenital dysfibrinogenemia, are similar to those found in Case 1 (femoral trabeculae remodelling) but also resemble some alterations described in hemophilia (pseudotumor of the right iliac bone). Anatomic study of the lesions in Case 2 was not possible. The significance of these observations could be better defined by a more extended skeletal study (radiologic and when feasible anatomic) of patients with congenital clotting defects and especially with inherited disorders of the fibrinogen molecule. It would also be worthwhile investigating manifest or latent hemostatic disorders (particularly at the fibrinogen level) in patients with solitary or aneurysmal bone cysts, and even with bone infarct or unexplained trabecular remodelling.
D000328:Adult; D000347:Afibrinogenemia / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D001845:Bone Cysts / Q000473:pathology; D001847:Bone Diseases / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D005269:Femur / Q000000981:diagnostic imaging; D006470:Hemorrhage / Q000473:pathology; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D013977:Tibia / Q000000981:diagnostic imaging