Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia) Differential Diagnoses

Updated: May 15, 2017
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD  more...
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DDx

Diagnostic Considerations

The diagnosis of Osler-Weber-Rendu disease (OWRD; ie, hereditary hemorrhagic telangiectasia [HHT]) is made clinically on the basis of the Curaçao criteria, established in June 1999 by the Scientific Advisory Board of the HHT Foundation International, Inc, for the purposes of improving patient care and standardizing research. [9] These criteria are as follows:

  • Epistaxis - Spontaneous and recurrent
  • Telangiectases - Multiple characteristic sites (eg, lips, oral cavity, fingers, or nose)
  • Visceral lesions - Gastrointestinal (GI) telangiectasia (with or without bleeding), pulmonary arteriovenous malformation (AVM), hepatic AVM, cerebral AVM, and spinal AVM
  • Family history - A first-degree relative who has HHT (according to these same criteria)

The HHT diagnosis is classified as definite if three criteria are present, possible or suspected if two criteria are present, and unlikely if fewer than two criteria are present. There is no firm consensus on the number of episodes or degree of epistaxis necessary for diagnosis; according to the Curaçao criteria, nosebleeds should occur spontaneously on more than one occasion, and night-time bleeding should be considered especially suspicious. [9]

Early diagnosis of family members or confirmation with genetic testing of patients who meet the Curaçao criteria may assist in the identification of those patients who are most at risk for specific sequelae.

In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:

  • Louis-Bar syndrome
  • Essential telangiectasia
  • Actinically damaged skin (actinic keratosis)
  • Scleroderma

Differential Diagnoses