September 14, 2015: Hereditary hemorrhagic telangectasia
September 14, 2015
Hereditary hemorrhagic telangectasia
Osler-Weber-Rendu syndrome, or Hereditary hemorrhagic telangectasia (HHT), is a vascular dysplasia affecting blood vessels in the brain, lungs, liver, and skin. Cerebral arteriovenous malformations (AVMs) affect up to 10% of patients and are often asymptomatic, with a risk of rupture lower than that for sporadic AVMs. Spinal AVMs are less common and affect 1-2 % of individuals, typically presenting in childhood with back pain and paralysis. While AVMs in HHT are thought to be congenital, telangiectasias are age-related with nosebleeds and mucocutaneous lesions arising in the second or third decades of life. Diagnosis of HHT is based upon clinical criteria, though genetic testing can help confirm diagnosis in individuals who do not display all characteristic findings. Mutations in the Endoglin and ACVRL1 genes, which are within the transforming growth factor-beta (TGF-B) pathway, account for 85% of cases.
- Gar N, Khunger M, Gupta A, and Kumar N. Optimal management of hereditary hemorrhagic telangiectasia. J BloodMed 2014; 5: 191-206.
- McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, and Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 2015; 6: 1-8.
Submitted by Adam Numis, MD, Department of Neurology, University of California, Los Angeles.
Disclosures: Dr. Numis is a member of the Residents & Fellows Section of Neurology