A Case of Refractory Iron Deficiency Anemia Diagnosed as Osler–Weber–Rendu Syndrome with Borderline Von Willebrand Factor Levels

Background: Osler–Weber–Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a autosomal-dominant disorder. The diagnostic criteria include: (1) spontaneous and recurrent epistaxis; (2) mucocutaneous telangiectasias; (3) visceral arteriovenous malformations; (4) first-degree relatives with HHT. Patients present with severe epistaxis, gastrointestinal bleeding, and iron deficiency anemia. Gastrointestinal bleeding is reported in 13 to 30% of patients with HHT. Treatment is generally focused on control of acute bleeding, prevention of re-bleeding, and treatment of anemia. Focal gastrointestinal tract bleeding can be treated with endoscopic coagulation, which could be life-saving. Life-threatening bleed could be secondary to pulmonary and cerebral aneurysms, and hence, screening is necessary with angiography.

Case report: A 40-year-old female presented with recurrent epistaxis and gingival bleeding since childhood, and underwent multiple transfusions in the past in view of anemia. There is significant family history with father and brother having history of epistaxis episodes. Multiple erythematous to purple lesions were noted over lips, hard palate, dorsum of tongue, fingertips, and cherry angioma over chest (dermoscopy). Per abdomen-soft, no organomegaly felt. Blood investigations showed bleeding time of 2 minutes 50 seconds, clotting time of 4 minutes 20 seconds, activated partial thromboplastin time of 32 seconds, prothrombin time of 13 seconds, international normalized ratio of 1.0, Hb electrophoresis normal. Stool occult blood-positive. Von Willebrand antigen level of 47.1 IU/dL (normal: 47–170.7 IU/dL). Esophago-gastro-duodenoscopy showed multiple small angiodysplastic lesions less than 5 mm, 1 lesion with active oozing of blood. Colonoscopy showed angiodysplastic lesion of size 5 × 5 mm in descending colon and smaller lesions were noted in transverse colon. Enteroscopy was normal. Patient was managed with argon plasma coagulation of angiodysplastic lesions and blood transfusions.

Figure 1

Conclusion: Gastrointestinal endoscopy plays a major role in diagnosis of hereditary hemorrhagic telangectasia with refractory iron deficiency anemia secondary to gastrointestinal bleeding, and in the treatment of HHT through coagulation of active angiodysplastic lesions. Screening of first-degree relatives with stool for occult blood is necessary as it is an autosomal-dominant condition and if necessary, endoscopy is done.

Publication History

Article published online:
22 April 2024