Cleveland Clinic Journal of MedicineAbdominal Pain in a Patient with Epistaxis, Telangiectasias, and Arteriovenous Malformations

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A 53-year-old woman’s case of hereditary hemorrhagic telangiectasia (HHT) illustrates the complex manifestations of arteriovenous malformations (AVMs) and their management. The patient presented with progressive upper abdominal pain, significant weight loss, and a history of recurrent epistaxis. Her case demonstrates how hepatic AVMs can lead to multiple clinical syndromes and highlights the effectiveness of bevacizumab therapy in managing HHT-related complications.

Key Points:

• Clinical presentation included chronic epistaxis, telangiectasias, and hepatic AVMs, leading to a high cardiac output state (cardiac index 7.7 L/minute/m2) and mesenteric steal syndrome
• Genetic testing revealed a heterozygous pathogenic ACVRL1 c.935A>C variant, confirming HHT diagnosis
• Bevacizumab therapy (5 mg/kg every 2 weeks for 6 doses, then every 4 months) resulted in significant improvement in epistaxis severity score (7.1 to 3.15) and abdominal symptoms
• Patient gained 5 kg after treatment initiation, avoiding the need for liver transplantation despite unchanged radiographic appearance of hepatic AVMs
• Pulmonary hypertension in HHT commonly results from either hepatic AVM-associated high cardiac output or heritable pulmonary arterial hypertension
• Management requires a multidisciplinary approach involving pulmonology, hematology, hepatogastroenterology, and otolaryngology

Hereditary hemorrhagic telangiectasia (HHT), formerly Osler-Weber-Rendu, is an inherited (autosomal dominant) disease that is named after the physicians who first independently described the condition: Henri Jules Louis Marie Rendu in 1896, William Osler in 1901, and Frederick Parkes Weber in 1907. (Haematologica)

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