Perianal Crohn Disease in a Patient With Congenital Afibrinogenemia: A Multidisciplinary Therapeutic Management...

Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized by absent or severely reduced circulating fibrinogen levels, leading to variable hemorrhagic manifestations. The coexistence of congenital afibrinogenemia and Crohn disease is exceptionally rare and represents a major diagnostic and therapeutic challenge, particularly in patients with active fistulizing perianal disease requiring repeated invasive procedures and immunosuppressive therapy. A 20-year-old woman with congenital afibrinogenemia diagnosed during childhood presented with chronic bloody diarrhea and perianal symptoms. Her bleeding history included umbilical cord bleeding, post-vaccination bleeding, recurrent ecchymoses, and fibrinogen levels below 0.4 IU/L. Seven months before admission, she developed a perianal abscess requiring surgical drainage, followed by persistent mucous and bloody diarrhea. Imaging demonstrated inflammatory rectal thickening and an active horseshoe anal fistula. Because of the anticipated hemorrhagic risk associated with endoscopic biopsies, intravenous fibrinogen concentrate was administered before endoscopy. The diagnosis of colonic Crohn disease with active fistulizing perianal involvement was established based on clinical, radiological, endoscopic, and histopathological findings. Following multidisciplinary evaluation, treatment with infliximab and azathioprine was initiated. During follow-up, recurrent epistaxis was successfully controlled with fibrinogen replacement therapy, while gastrointestinal and perianal symptoms markedly improved without major hemorrhagic, thrombotic, or infectious complications. This association of congenital afibrinogenemia with active fistulizing perianal Crohn disease highlights the complexity of balancing inflammatory control, procedural safety, and hemorrhagic risk. Individualized multidisciplinary management and appropriate peri-procedural hemostatic support are essential to optimize outcomes in this exceptionally rare clinical setting.