Successful Treatment of Hereditary Hemorrhagic Telangiectasia With Octreotide

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT) also known as Osler Weber Rendu syndrome is an underdiagnosed autosomal dominant disorder that results from multisystem vascular dysplasia and is characterized by telangiectasias and arteriovenous malformations (AVM) of skin, mucosa and internal organs. Laser coagulation is the mainstay of treatment for symptomatic AVM. In addition, various medical therapies such as antiangiogenics, antifibrinolytics and hormones have been endeavored with variable outcomes. Here, we present a case report of HHT with favorable response to a somatostatin analogue; a 74-year-old male diagnosed with HHT at the age of 9. Patient has been suffering from chronic anemia due to recurrent nasal and gastrointestinal bleeding. He has undergone numerous endoscopic ablations of AVMs in addition to receiving oral/IV iron replacement and frequent blood transfusions. Since excessive AVM ablations and blood transfusion were insufficient in controlling the patient's symptoms and significantly compromised his quality of life, he was started on intramuscular octreotide (every 28 days) as a vasoactive agent. Following octreotide initiation, there has been a significant improvement in the patient's clinical course as evidenced by the absence of melena, significant decrease in number of transfusions and a steady increase in the hemoglobin level. In the six months preceding octreotide initiation, patient was averaging 4.7 blood transfusions per month; following octreotide initiation, he has averaged 0.7 transfusions each month, including the setting of plastic surgery during this time frame. In the six months prior to octreotide, patient underwent three endoscopic procedures for ablation of AVMs, but following octreotide he has not required further endoscopic interventions and his hemoglobin has remained above 8. To the best of our knowledge, this is the first case of HHT successfully treated with Octreotide.