Osler-Weber-Rendu Syndrome

64. Osler-Weber-Rendu Syndrome



Definition


Osler-Weber-Rendu syndrome (OWRS) is an autosomal dominant, inherited disorder characterized by telangiectases, recurrent epistaxis, and first-degree relative(s) positive for the disorder. Telangiectases are lesions produced by telangiectasia. They may present as a coarse or fine, red line or may appear as a punctum with radiating arms (spider-like appearance). Osler-Weber-Rendu syndrome is also known as hereditary hemorrhagic telangiectasia (HHT).


Incidence


The incidence of OWRS is 1:100,000 to 2:100,000. It is reported in all racial groups and almost all ethnic groups without predilection for either gender.



Curaçao Criteria for Osler-Weber-Rendu Syndrome






Epistaxis: Spontaneous and recurrent


Family history: First-degree relative positive for hereditary hemorrhagic telangiectasia


Telangiectases: Multiple at various characteristic sites (lips, oral cavity, fingers, nose)


Visceral lesions: Gastrointestinal telangiectasia, pulmonary AVM, hepatic AVM, central AVM, or spinal AVM

AVM, Arteriovenous malformation.


Etiology


There are four types of HHT: (1) HHT type 1, (2) HHT type 2, (3) JPHT, and (4) HHT type 3. Genetic loci have been identified for three types of the disease. HHT type 1 results from defects in the long arm of chromosome 9 (9q33-34). HHT type 2 is derived from defects on the long arm of chromosome 12 (12q13). JPHT appears to result from mutations on the long arm of chromosome 5 (5q31.1-32). HHT type 3 appears to follow pathways similar to the three other types, but a specific gene locus has not been identified.







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Osler-Weber-Rendu Syndrome. Note the telangiectatic lesions.


Signs and Symptoms






• Anemia


• Arteriovenous malformations (AVM) at multiple sites, notably the brain and lungs


• Clubbing


• Continuous thoracic bruit


• Cyanosis


• Dyspnea on exertion


• Easy fatigability


• Epistaxis


• Hemoptysis


• Hepatomegaly

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Aug 5, 2016 | Posted by in ANESTHESIA | Comments Off on Osler-Weber-Rendu Syndrome

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