LATE DIAGNOSIS OF HEREDITARY HEMORRHEGIC TELANGIECTASIA

Abstract

Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disease with an average prevalence of 1 in 5000-8000 inhabitants. It is caused by an alteration in angiogenesis that leads to vascular alterations. It is present from birth, and is clinically diagnosed using the Curacao criteria, which are present in 80% of patients between 20 and 30 years of age. Genetic diagnosis is also possible. Clinical case: 77 years old, female, personal history of epistaxis since childhood, chronic iron deficiency anemia requiring iron treatment and repeated digestive hemorrhages, multiple blood transfusions and gastrointestinal resection surgery due to incoherent bleeding. Admission due to functional anemic syndrome due to dyspnea in the context of upper digestive hemorrhage. Microcytic hypochromic anemia hemoglobin 4.9 g/dl requiring transfusion of 2 units of deplasmatized blood, compatible extended phenotype. On admission, fibrogastroscopy reported multiple ectasias and 2 ulcerated gastroduodenal lesions. Physical examination revealed pale skin and mucosa and telangiectasias in the hands, fingertips, face and lips that she had had since childhood. Based on the Curacao diagnostic criteria in force since 2000, a clinical diagnosis of HHT was made in our patient due to recurrent spontaneous epistaxis, mucocutaneous telangiectasias in characteristic sites, and gastrointestinal arteriovenous malformations (AVMs), which is why she presents 3 of the 4 Curacao criteria. Treatment with ferrous sulphate was started for her anaemia, and she was followed up in a transfusion medicine outpatient clinic upon discharge and given family counselling. Conclusions: It is important for the medical team to be aware of this HHT pathology to recognize its existence as early as possible, to carry out a correct study, treatment and follow-up in order to avoid its complications and improve the quality of life of these patients.