title: Rare and unusual bleeding manifestations in congenital bleeding disorders: an annotated review.
abstract: Epistaxis, superficial and deep hematomas, hemarthrosis, gastrointestinal bleeding, hematuria represent the most frequent hemorrhagic events in congenital coagulation disorders. Occasionally, bleeding manifestations occur in unusual sites or are peculiar. A clotting defect may alter the clinical aspect of skin conditions or infections (hemorrhagic scabies or varicella). Hemobilia may occur as a complication of transjugular liver biopsy in hemophilia or Bernard-Soulier syndrome. Hemarthrosis of small joints of feet and hands occur in patients with hemophilia treated with protease inhibitors. Intramedullary hematomas of long bones have been described in α2-plasmin inhibitor or fibrinogen deficiencies. Spleen fracture with consequent hemoperitoneum has been reported in patients with fibrinogen deficiency. Rectus muscle sheath hematoma may occur in patients with factor VII (FVII)or FX deficiency. Acute or subacute intestinal obstruction may be caused by intramural wall hematomas in hemophilia and von Willebrand (vW)-disease. Physicians should always keep in mind that a congenital hemorrhagic disorder may cause bleeding in any tissue of the body and therefore alter the normal clinical features of a given disease.
authors.affiliation: Department of Medical and Surgical Sciences, University of Padua Medical School, Italy. antonio.girolami@unipd.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.forename: Silvia
authors.initials: S
authors.lastname: Vettore
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Ruzzon
authors.forename: Giulia Berti de
authors.initials: GB
authors.lastname: Marinis
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
mesh_terms: D001791:Blood Platelet Disorders / Q000150:complications / Q000151:congenital; D001847:Bone Diseases / Q000209:etiology; D020147:Coagulation Protein Disorders / Q000150:complications / Q000151:congenital; D004844:Epistaxis / Q000209:etiology; D005260:Female; D006395:Hemarthrosis / Q000209:etiology; D006406:Hematoma / Q000209:etiology; D006470:Hemorrhage / Q000209:etiology*; D006474:Hemorrhagic Disorders / Q000150:complications*; D006801:Humans; D008297:Male; D008595:Menorrhagia / Q000209:etiology; D009928:Organ Specificity; D017395:Plasminogen Activator Inhibitor 1 / Q000172:deficiency; D013161:Splenic Rupture / Q000209:etiology; D013666:Tears; D000979:alpha-2-Antiplasmin / Q000172:deficiency
chemical_list: D017395:Plasminogen Activator Inhibitor 1; D000979:alpha-2-Antiplasmin