Genetic deficiency of factor VII and hemorrhagic diathesis. A case report and literature review.
FVII deficiency is a rather rare inherited hemocoagulation disorder that predisposes to hemorrhagic events, especially from mucous membranes, that are not predictable and severe as in hemophilia A. This defect produces prolonged prothrombin time (PT), reduced activity of FVII and normal activated partial thromboplastin time (aPTT). We report the case of a 43-year-old obese woman with severe deficiency of factor VII (FVII), probably genetic in nature, and meno-metrorrhagia associated with multiple fibromas of uterus. Our patient had no history of bleeding in infancy and young age, and in the past, before the disease was diagnosed, underwent major surgery operations (thyroidectomy and caesarian section) without hemorrhage. Patient's relatives with mild heterozygous deficiency of FVII (the father, a brother, a sister, a sister's daughter and the patient's son) did not show any bleeding tendency. This case report is discussed in the light of literature data ((source: Medline from 1964 to 1996). The different forms of congenital (isolated or combined with other clotting disorders) and acquired FVII deficiency, with the appropriate therapies, are reviewed. The clinician must consider FVII deficiency in cases of recurrent bleeding, and this disease, even if rather rare, should not be underestimated in clinical practice because it is potentially fatal.
Iannello
S
S
Institute of Internal Medicine and Internal Specialties, University of Catania Medical School, Garibaldi Hospital, Italy.
Prestipino
M
M
Belfiore
F
F
D000328:Adult; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006474:Hemorrhagic Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male