Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominantly inherited disorder characterized by bleeding episodes. These episodes tend to happen spontaneously and reduce the quality of life. Patients are often unresponsive to local measures. With the pathophysiological role of angiogenesis in HHT, antiangiogenic drugs including thalidomide are used to control bleeding episodes. In our study, we evaluated 6 patients with HHT, calculating their Epistaxis Severity Score (ESS) and performing a quality of life assessment with the 36-Item Short Form Health Survey Questionnaire (SF-36), and we studied the alterations of these evaluations with thalidomide treatment. Three patients were male and three were female. Mean age was 60.50 years. No side effects were observed during the treatment period. Improvements of certain SF-36 dimensions including physical functioning, physical component summary, and mental component summary and of the ESS were observed after treatment. Thalidomide may be effective to control bleeding episodes with a reasonable tolerance profile in patients with HHT.
Highlights
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia and arteriovenous malformations of the skin, mucosal tissues, and internal organs including the gastrointestinal tract, liver, and lungs
We evaluated 6 patients with HHT, calculating their Epistaxis Severity Score (ESS) and performing a quality of life assessment with the 36-Item Short Form Health Survey Questionnaire (SF-36), and we studied the alterations of these evaluations with thalidomide treatment
Anemia is a very common symptom in HHT patients, due to bleeding from telangiectases located in the nasal mucosa and to telangiectases located in the gastrointestinal tract, especially active in older ages
Summary
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia and arteriovenous malformations of the skin, mucosal tissues, and internal organs including the gastrointestinal tract, liver, and lungs. Recurrent epistaxis due to nasal telangiectasia is the most common finding [1,2]. Anemia is a very common symptom in HHT patients, due to bleeding from telangiectases located in the nasal mucosa and to telangiectases located in the gastrointestinal tract, especially active in older ages. The diagnostic criteria for HHT were defined in 2000 and updated in 2011, including epistaxis, telangiectases, vascular malformations, and family history. The presence of 3 of these criteria is suggested to be sufficient for diagnosis [4].
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