IS Case 294: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu)

Benita Tamrazi, MD

Imaging Sciences URMC 2009
Publication Date: 2009-08-05

History

Patient is a 73-year-old female seen in the emergency department with left hemothorax.

Findings

Well circumscribed enhancing nodule seen in the left upper lobe with draining vessel.

Diagnosis

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu)

Discussion

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu Syndrome) is an autosomal dominant disorder affecting 1 in 5000 people. It can present with nose bleeds, gastrointestinal bleeding, and iron deficiency anemia associated with telangiectasia on the lips, oral mucosa, and fingertips. The disease process also includes abnormal vessels, especially arteriovenous malformations (AVMs) of the pulmonary, hepatic, and cerebral circulations.

Diagnostic criteria are based on 4 components. The diagnosis is considered definite if 3 criteria are present and is considered possible if 2 criteria are present. The diagnosis is unlikely if fewer than 2 criteria are present. The criteria are as follows:

  1. Nosebleeds - Spontaneous and recurrent.
  2. Telangiectasias - Multiple sites including the lips, oral cavity, fingers, and nose.
  3. Presence of internal lesions - GI telangiectasia, pulmonary arteriovenous malformations (AVMs), hepatic AVMs, cerebral AVMs, spinal AVMs.
  4. Family history - A first-degree relative with Osler-Weber Rendu syndrome according to these criteria.

It has been estimated that at least 30% of HHT patients have pulmonary involvement, 30% have hepatic involvement, and 10%–20% have cerebral involvement. Embolization, ligation, or surgical excision is indicated for enlarging or symptomatic AVMs, particularly in the lungs.

References

  1. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 2003 Jan;79(927):18-24.PMID: 12566546 [PubMed]
  2. Cottin V, Chinet T, Lavolé A, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine (Baltimore). 2007 Jan;86(1):1-17. PMID: 17220751 [PubMed]

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