Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

Abstract

Genetics & Birth Defects| September 01 2009 Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia AAP Grand Rounds (2009) 22 (3): 29. https://doi.org/10.1542/gr.22-3-29 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. AAP Grand Rounds September 2009; 22 (3): 29. https://doi.org/10.1542/gr.22-3-29 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search toolbar search search input Search input auto suggest filter your search All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: hereditary hemorrhagic telangiectasia, congenital arteriovenous malformation Source: Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guideline for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet. Epub 2009 Jun 29; doi:10.1136/jmg.2009.069013 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. Individuals with two of these features are considered suspected. Most individuals with HHT will have an affected close relative. Asymptomatic children of a parent with HHT should be suspected to have HHT, unless excluded by genetic testing. If genetic testing is not possible, the clinician should proceed as if the child has HHT and consider screening for visceral arteriovenous malformations (AVM). The most common mutations associated with HHT are in ENG and ACVRL1 coding sequences. Individuals who test negative for these should undergo SMAD4 testing to identify the causative mutation. All HHT patients and their families with SMAD4 gene mutations should undergo gastrointestinal screening for polyposis and gastrointestinal malignancies starting at 15–18 years of age, or at 5 years younger than the age at which the youngest family member developed colon cancer, whichever occurs first Children with possible or confirmed HHT should be screened for pulmonary AVMs (PAVM). In patients with negative initial screening, repeat screening should be considered after puberty, after pregnancy, within five years preceding planned pregnancy, and otherwise every 5 to 10 years. In children, the choice of screening tests should be decided on a case-by-case basis, but may include clinical evaluation (for cyanosis, dyspnea, clubbing), supine and upright pulse oximetry, chest radiography, and/or transthoracic contrast echocardiography. All symptomatic patients should be treated with transcatheter embolotherapy. The decision to treat asymptomatic children (no dyspnea, no exercise intolerance, no growth delay, no cyanosis or clubbing, no previous complication) should be made on an individual basis. Patients with documented PAVMs (treated or untreated) should receive antibiotic prophylaxis for procedures with risk of bacteremia. Extra care should be taken to avoid air embolus when IV access is in place in such patients and they should avoid SCUBA diving. Dr Iafolla has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device. HHT is characterized by the development of multiple AVMs in visceral organs. Although most clinically diagnostic signs and symptoms develop after the first decade of life, lack of suspicion of the disease in asymptomatic children can lead... You do not currently have access to this content.