Current Genetic Medicine Reports

, Volume 3, Issue 1, pp 35–47 | Cite as

Genetic and Molecular Basis for Hereditary Hemorrhagic Telangiectasia

Reproductive and Developmental Genetics (Z Urban and B Pober, Section Editors)
Part of the following topical collections:
  1. Reproductive and Developmental Genetics


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that predisposes patients to develop direct connections between arteries and veins, or arteriovenous malformations (AVMs). Although the genes responsible for the majority of HHT cases have been known for nearly 20 years, molecular and cellular mechanisms underlying pathogenesis are poorly understood, and the genetic and/or environmental factors that confer variability to age of onset and expressivity of HHT remain unknown. Herein, we review the genetics and genotype/phenotype correlations associated with HHT and summarize data from animal and cell culture models that lend insight into disease mechanism. At present, therapies available to HHT patients for treatment of visceral AVMs are primarily surgical, although antiangiogenic agents show some efficacy in treatment of telangiectasias, epistaxis, and liver AVMs. In light of new mechanistic data on disease pathogenesis, we consider possible approaches for development of more targeted therapeutics for HHT patients.


Hereditary hemorrhagic telangiectasia Arteriovenous malformation Activin receptor-like kinase 1 Endoglin Bone morphogenetic protein Angiogenesis 


Papers of particular interest, published recently, have been highlighted as: • Of importance; •• Of major importance

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© Springer Science + Business Media New York 2014

Authors and Affiliations

  1. 1.University of Pittsburgh Graduate School of Public HealthPittsburghUSA

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