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Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder inherited in an autosomal dominant manner, with a prevalence of 1 patient per 5000-8000 people, approximately affecting 800 people in Uruguay. The Curacao criteria for diagnosis are a family history of HHT, epistaxis, cutaneous-mucosal telangiectasias and arteriovenous malformations in different organs. These patients frequently present with iron deficiency anemia, most frequently caused by epistaxis and gastrointestinal bleeding, which leads us to the importance of treatment with the most effective and easy-to-administer iron supplement so that the quality of life is as little altered as possible. Clinical case: 54-year-old woman, diagnosed with HHT according to the 4 Curacao criteria and genetic diagnosis HHT 2. Since age 40, she has had nosebleeds that increase in frequency and quantity (SADIK scale) and it is necessary to start with iron saccharate at a dose of 200 mg I/V 3 times a week. Septodermioplasty was clearly effective for a few months. He received plasma-free blood transfusions on multiple occasions (13 units from 2011 to 2017). Since 2018, treatment with ferric carboxymaltose iron has been started at a dose of 500 mg twice a week, with Hb between 8 and 9 g/dl, showing improvement inferritin and therefore in hemoglobin. Currently, 1000 mg of I/V iron is administered monthly, maintaining Hb between 11 and 12 g/dl, with a slightly lower score on theSADIK scale. He did not have any adverse reactions to this type of iron and phosphate levels aremonitored, which are normal so far. Conclusion: Treatment of iron deficiency anemia is essential in these patients, especially in those with type 2 nasal bleeding that can be so severe that it can lead to death due to acute bleeding. In this patient it has been clearly demonstrated that the use of this type of iron clearly improves iron deposits, decreases anemia and improves the quality of life of the patient, since multiple punctures limit the venous capital of the patients and alter their quality of life. Discussion: For these patients with this HHT pathology and especially those with type 2 with epistaxis and gastrointestinal bleeding, severe iron deficiency anemia, it is essential to offer them the best available treatment, which is effective, the possibility of giving high doses of intravenous iron in a few minutes, therefore performing few punctures, excellently tolerated and therefore improving the quality of life of a pathology that still has no treatment. |
