Osler-Weber-Rendu Disease - Medtick
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Osler-Weber-Rendu Disease

What is it?

An inherited genetic disorder that affects blood vessels that connect from arteries (thick blood vessels) to the thin blood vessels (capillaries) and/or from capillaries to veins (medium size blood vessels) do not to form properly causing bleeding.

  • It can affect all parts of the body including brain, nose, mouth, lips, lungs and digestive tract and abdominal including the liver.
  • In small blood vessels, these abnormalities are called telangiectases.
  • In larger vessels, they’re called arteriovenous malformations (AVM).
  • People who have Osler-Weber-Rendu disease may have both kinds of malformation

Diagnosis Tests

Traditionally, the diagnosis was made on the basis of the classic triad of epistaxis, telangiectasia, and family history. In 1999, the Scientific Advisory Board of Osler-Weber-Rendu-HHT Foundation International published stringent criteria to help guide the diagnosis of Osler-Weber-Rendu syndrome.[1] The criteria include the following[2]:

  • Epistaxis: Spontaneous, recurrent nose bleeds
  • Telangiectasis: Multiple and at characteristic sites (lips, oral cavity, fingers, nose)
  • Visceral lesions: Such as GI (stomach and intestines) telangiectasia (with or without bleeding), pulmonary (lungs)  AVM, hepatic (liver) AVM, cerebral (head) AVM, spinal AVM
  • Family history: A first-degree relative with Osler-Weber-Rendu syndrome according to these criteria
  • A diagnosis of Osler-Weber-Rendu syndrome is considered definite if three criteria are present, possible or suspected if two criteria are present, and unlikely if fewer than two criteria are met.[1]
  • A clinical diagnosis in children may be difficult because epistaxis may present years before cutaneous telangiectasia.

[1] Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91:66-67.

[2] Lessnau KD, Thirumala RD, Izaguirre DE, Lanza J. Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia). Medscape Drugs & Diseases. Last updated October 6, 2020.

Medscape

Cause

  • Family history
  • Faulty gene, which is usually inherited from one of their parents  (gene normally provides instructions for making certain proteins found in the lining of the blood vessels. In this case the gene can’t produce this protein, or the protein it produces is abnormal) the genes identified are:
  • Chromosome 9q33 and identified as ENG (endoglin).
    • Endoglin serves as a transforming growth factor beta binding protein.
    • Various mutations have been reported at this site, which represents the most common form
    • Other genes have been mapped to chromosomes 12q13, 5q31-32, and 7p14, leading to Osler-Weber-Rendu syndrome types 2 through 4, respectively.
    • Osler-Weber-Rendu syndrome type 2 is defined by a mutation in the ALK1 gene, which produces an activin-like tyrosine kinase.
    • Both ENG and ALK1 gene products help mediate vascular remodeling by endothelial cells.

Symptoms

  • Lacy red vessels (visible red spots) particularly on the  lips, mouth, fingers, nose and the inside of your mouth, ears and face?
  • Nose bleeds?
  • Cough up blood?
  • Blood in the stool?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?

Complications /Information to beware of/General tips:

Medical Emergency Condition

Do not wait, phone for an ambulance if have symptoms or develop:

  • Stroke
  • Aneurysm
  • Bleeding from any orifice
  • Headache with vomiting
  • Confusion
  • Irritated and aggressive
  • Hallucinations
  • Seizures

This condition can lead to:

Pregnancy

  • One should speak to their medical doctor if considering to get pregnant if they have this condition as one is prone to damaged and/or bleeding blood vessels which can affect the blood supply to their child and the mothers own health.

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Osler-Weber-Rendu Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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