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PICO
Question: Among children in whom hereditary hemorrhagic telangiectasia is suspected, what are the definite criteria for diagnosis and recommendations for prevention of complications?
Question type: Diagnosis
Study type: Consensus guidelines
Experts from eleven countries developed evidence-informed consensus guidelines regarding the diagnosis and treatment of hereditary hemorrhagic telangiectasia (HHT), an autosomal-dominant disease with an estimated prevalence of approximately 1/5,000. The vast majority of the 33 recommendations made reflected the opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees.
The diagnosis of HHT can be made using clinical criteria or by identification of a causative gene mutation. A clinical diagnosis of HHT is considered definite if three or more of the following are found: 1) spontaneous and recurrent epistaxis; 2) multiple telangiectasias at characteristic sites (lips, oral cavity, fingers, nose); 3) visceral lesions (GI, pulmonary, hepatic, cerebral, or spinal); and 4) first degree relative with HHT. …
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