Diagnosis And Treatment

Individuals with HHT should receive an initial workup at the time of diagnosis, followed by preventive care and surveillance. Recommended workup for patients with HHT includes complete blood count (CBC), evaluation for stool occult blood, brain magnetic resonance imaging to evaluate for cerebral AVMs, contrast echocardiography to screen for pulmonary shunting followed by chest computed tomography to evaluate pulmonary AVMs if shunting is found, and evaluation for liver involvement by listening for bruits on physical exam. Patients with evidence of pulmonary shunting should be placed on prophylactic antibiotics to prevent infected emboli. Pulmonary and cerebral AVMs are treated using transcatheter embolization, while treatment for symptomatic liver

FIGURE 6 Matted telangiectasias on the lip of a patient with hereditary hemorrhagic telangiectasia. Courtesy of Dr. Terence O'Grady, University of California San Diego.

involvement consists of liver transplantation due to the high risk of liver infarction with embolization. Skin lesions usually require no treatment except for cosmetic reasons. Mild epistaxis is usually managed conservatively. Careful laser ablation is an effective treatment for moderate epistaxis; severe epistaxis can be treated by septal dermoplasty using split thickness skin grafts. Anemia secondary to gastrointestinal bleeding or epistaxis can usually be treated with iron supplementation. Additionally, patients with HHT should avoid medications that interfere with normal coagulation.

Given the complexity of care required for patients with HHT, multidisciplinary teams specializing in the treatment of these patients are ideal and usually consist of ear, nose, and throat (ENT) surgeons, interventional radiologists, pulmonologists, neuroradiol-ogists, neurosurgeons, medical geneticists, genetic counselors, cardiologists, gastroenter-ologists, hematologists, and sometimes neurologists and pediatricians.

Individuals at risk for HHT should undergo evaluation to determine whether they are carriers of the disease. DNA testing is available and can be performed in relatives of patients with HHT.

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