| Abstract [eng] |
Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder associated with alterations of angiogenesis. Heterozygous mutations in the ENG or ACVRL1 genes determine more than 90% of cases. It is a rare disease affecting from 1:5000 to 1:8000 individuals worldwide. Clinically, the disease is characterized by telangiectasias of the skin and mucous membranes, arteriovenous malformations in organs such as the lungs, liver, gastrointestinal tract and the brain and, one of the most common manifestations of the disease, recurrent spontaneous epistaxis. The diagnosis of hereditary hemorrhagic telangiectasia is made according to the Curaçao criteria, which include a positive family history, recurrent epistaxis, telangiectasias and visceral arteriovenous malformations. Meeting three or more of the criteria means a definite diagnosis of hereditary hemorrhagic telangiectasia, which can also be confirmed by the identification of mutated genes specific to the disease. The most common clinical symptom, recurrent epistaxis, is referred to otorhinolaryngologists, who are the most likely to see or recognise patients with this condition. Although there is no etiological cure for this disease, in recent years a better understanding of the pathophysiology of the disease has been achieved, which has enabled new treatment strategies, both pharmacological and surgical, to be applied, improving the quality of life of patients. The treatment of recurrent epistaxis is recommended in the Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia, which recommend conservative measures such as humidifying the mucous membranes of the nose. In case of failure to respond the oral administration of tranexamic acid is recommended, and, where necessary, the use of interventional procedures, such as laser treatment, radiofrequency ablation, electrosurgery and sclerotherapy. In the absence of response to the above listed interventions, systemic antiangiogenic therapy, septodermoplasty or nasal closure is recommended. The aim of this literature review is to analyze the etiopathogenesis of hereditary hemorrhagic telangiectasia, with an emphasis on the relevance of the disease in otorhinolaryngology and the possible treatment options. |
