Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of HHT has not been considered are more likely to be diagnosed using genomic testing (see Option 2). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Molecular genetic testing approaches can include a combination of concurrent gene or serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing. Telangiectases and AVMs in locations other than those listed above as characteristic should not be considered suggestive of HHT. (2) The vascular malformations of HHT occur in characteristic locations. Signs and symptoms of HHT generally develop during childhood and adolescence epistaxis, telangiectases, and symptoms of visceral AVMs are frequently absent in affected children (see Evaluation of Relatives at Risk). Note: (1) The application of clinical diagnostic criteria to children at risk for HHT can fail to identify affected children. The clinical diagnosis of HHT can be established in a proband using criteria referred to as the Curaçao criteria, which require three or more of the above suggestive findings, or the molecular diagnosis can be established in a proband with suggestive findings and a heterozygous pathogenic variant in one of the genes listed in Table 1 identified by molecular genetic testing. Iron replacement is preferred for anemia, but transfusion of packed red blood cells may be necessary for symptomatic anemia despite aggressive iron replacement therapy. Pregnancy management: Women with HHT considering pregnancy are screened and treated for pulmonary and cerebral AVMs sizable pulmonary AVMs discovered during pregnancy are treated during the second trimester. If the pathogenic variant in the family is not known, at-risk family members should be evaluated for signs and symptoms of HHT, and screening should be offered to at-risk family members if the diagnosis cannot be ruled out. Surveillance: Annual evaluation by a health care provider familiar with HHT for signs and symptoms of complications annual hematocrit, hemoglobin, and ferritin evaluation for pulmonary AVMs every five years with transthoracic contrast echocardiography (TCE) in adults, TCE or chest radiograph with pulse oximetry in children brain MRI with and without contrast using sequences that detect blood products in infancy and again after puberty for cerebral AVMs colonoscopy at age 15 years and repeated every three years if no polyps are found, or annually with esophagogastroduodenoscopy if colonic polyps are identified in those with SMAD4-HHT.Īgents/circumstances to avoid: Vigorous nose blowing lifting heavy objects straining during bowel movements finger manipulation in the nose anticoagulant and anti-inflammatory agents (including aspirin) in individuals with significant nose or GI bleeding scuba diving unless TCE within the last five years was negative for evidence of a right-to-left shunt liver biopsy.Įvaluation of relatives at risk: Molecular genetic testing is offered to at-risk family members if the germline pathogenic variant has been identified in the family. Gastrointestinal polyps are treated according to guidelines for juvenile polyposis syndrome. Cerebral AVMs are treated as indicated by size, location, or symptoms: by surgery, embolotherapy, and/or stereotactic radiosurgery. Symptomatic hepatic AVMs are managed medically liver transplantation is recommended for individuals who do not respond to medical therapy and who develop high-output heart failure. Treatment of pulmonary artery hypertension as per cardiologist, pulmonologist, and other relevant specialists. This may include an air filter when available and compatible with the medication being administered. When pulmonary shunting is present, use antibiotic prophylaxis for dental and non-sterile invasive procedures, taking care to prevent air bubbles from being introduced in intravenous lines. Pulmonary AVMs with a feeding vessel 1-2 mm or greater in diameter typically require occlusion for stroke prevention. GI bleeding and anemia is treated with iron replacement therapy and (if needed) blood transfusions and antiangiogenic agents. Treatment of manifestations: Nosebleeds are treated with humidification, topical moisturizing therapy, hemostatic products, antifibrinolytic therapy, ablation therapy, systemic antiangiogenic agents, septodermoplasty, and nasal closure as needed.
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