Pomalidomide successfully treated transfusion-dependent epistaxis in hereditary hemorrhagic telangiectasia: a case report

Hereditary hemorrhagic telangiectasia (HHT, Osler disease) is an inherited vascular disorder characterized by recurrent bleeding from fragile telangiectatic vessels. Epistaxis is the most common manifestation and often results in chronic transfusion-dependent anemia. Although anti-angiogenic therapies have shown clinical benefit, effective oral treatment options remain limited. We report a 75-year-old man with HHT and transfusion-dependent epistaxis who experienced a remarkable response to pomalidomide. He had concomitant smoldering multiple myeloma with an IgG-κ monoclonal protein and received thalidomide for hematological disease without improvement of epistaxis. Because of the limited efficacy of thalidomide, treatment was switched to pomalidomide (2 mg/day). After three weeks of therapy, epistaxis markedly decreased and red blood cell transfusions were no longer required. Pomalidomide was temporarily discontinued because of worsening pleural effusion, which was subsequently attributed to heart failure. During treatment interruption, epistaxis gradually recurred, leading to renewed transfusion dependence. Reintroduction of pomalidomide again resulted in rapid improvement of epistaxis and sustained transfusion independence without recurrence of pleural effusion. This clinical course strongly suggests a therapeutic effect of pomalidomide on HHT-associated bleeding. Pomalidomide may represent a promising oral therapeutic option for patients with severe transfusion-dependent HHT, particularly when conventional treatments are insufficient.