Based on smear morphology and the red blood cell indices (mean cell volume [MCV], mean cell hemoglobin [MCH], mean corpuscular hemoglobin concentration [MCHC]), the patient has a severe microcytic, hypochromic….
Given the diagnosis of HHT, how should this patient be managed?
The patient's history and physical examination (telangiectasia involving the lips, tongue, and palms) are consistent with a diagnosis of hereditary hemorrhagic telangiectasia (HHT). Three diagnostic criteria are met: multiple telangiectases, recurrent epistaxis, and a positive family history (father's history of epistaxis and a brain abscess, which can occur in 5%-10% of patients with H HT). The diagnosis of HHT can be confirmed by screening for mutations in the endoglin and AL.K. / genes, which are present in more than 80% of patients fulfilling HHT clinical criteria. As for the evaluation of the patient's ongoing blood loss, upper endoscopy revealed multiple telangiectases in the mucosa of the stomach and duodenum, while colonoscopy was unremarkable. Because of the marked dyspnea, she was also screened for the presence of arteriovenous malformations in the lung and central nervous system (both common sites of major prognostic significance in patients with H HT). No malformations were found. Questions
• Given the diagnosis of HHT, how should this patient be managed?