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Hereditary Hemorrhagic Telangiectasia.

Joseph G Parambil1

  • 1Department of Medicine, Respiratory Institute, Cleveland Clinic, A-90, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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|August 13, 2016
PubMed
Summary

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder affecting blood vessels. This review highlights its varied symptoms and potential for serious complications like stroke and hemorrhage.

Keywords:
Arteriovenous malformationHereditary hemorrhagic telangiectasiaTelangiectasia

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Area of Science:

  • Genetics and Vascular Biology
  • Medical Review

Background:

  • Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder.
  • It affects approximately 1 in 5000 individuals, often remaining underdiagnosed.
  • Clinical presentations vary significantly, even among family members with identical mutations.

Purpose of the Study:

  • To provide a comprehensive review of HHT for pulmonologists.
  • To increase awareness of HHT's diverse manifestations and potential complications.
  • To aid in the early recognition and diagnosis of HHT.

Main Methods:

  • Review of existing literature on Hereditary Hemorrhagic Telangiectasia.
  • Synthesis of clinical presentations, diagnostic challenges, and management strategies.
  • Focus on aspects relevant to pulmonary medicine.

Main Results:

  • Common symptoms include telangiectasias of the skin and nasal mucosa.
  • Silent arteriovenous malformations in the lungs, brain, GI tract, and liver are frequent.
  • Life-threatening complications such as stroke and hemorrhage can arise from these malformations.

Conclusions:

  • HHT is a significant cause of morbidity and mortality due to vascular abnormalities.
  • Pulmonologists are often the first to encounter HHT patients, making awareness crucial.
  • Early diagnosis and management are essential to prevent severe complications.