Rare and Unusual Bleeding Manifestations in Congenital Bleeding Disorders

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.

Impact of Exercise/Sport on Well-being in Congenital Bleeding Disorders

“…22,23 Rare congenital bleeding disorders (deficiencies of fibrinogen, prothrombin, factor V, combined factor V þ VIII, factor VII, factor X, factor XI, factor XIII) are rare disorders characterized by spontaneous or posttraumatic bleedings (see ►Table 1). [24][25][26] The clinical manifestations are heterogeneous, with significant individual variability in bleeding phenotype. [24][25][26] In contrast to hemophilia patients who are generally on prophylaxis, patients affected by rare coagulation disorders are mostly treated on demand.…”

“…[24][25][26] The clinical manifestations are heterogeneous, with significant individual variability in bleeding phenotype. [24][25][26] In contrast to hemophilia patients who are generally on prophylaxis, patients affected by rare coagulation disorders are mostly treated on demand. [24][25][26] As a consequence, they are not protected during physical activity, so are at major risk of bleeding in case of minor trauma.…”

“…[24][25][26] In contrast to hemophilia patients who are generally on prophylaxis, patients affected by rare coagulation disorders are mostly treated on demand. [24][25][26] As a consequence, they are not protected during physical activity, so are at major risk of bleeding in case of minor trauma. In addition, a potential injury could be more dangerous and life threatening.…”

Cryoprecipitate: an outmoded treatment?

“…In dysfibrinogenaemia, the plasma fibrinogen level is usually low, but sometimes can be normal (Sørensen & Bevan, ). This can result in poor wound healing or bleeding after surgery and spontaneous thrombosis (Girolami et al ., ). Abnormal fibrin clot structure and dysfunctional fibrinolysis can contribute to thrombogenesis in patients with dysfibrinogenaemia.…”

A Rare Clinical Problem: Intestinal Pseudolymphoma in a Patient with Haemophilia A.

“…[3][4][5] We report an unusual pseudotumor in a patient with hemophilia A in whom intramural hematoma of the ileum mimicking intestinal lymphoma on ultrasonography (US).…”