Hereditary haemorrhagic telangiectasia

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Wikipedia on Hereditary haemorrhagic telangiectasia (Less technical, ? quality control)

Hereditary haemorrhagic telangiectasia is also known as Osler-Weber-Rendu syndrome and hereditary hemorrhagic telangiectasia (HHT). It is an autosomal dominant genetic disease that affects the vasculature of numerous organs with a fairly high prevalence of around 1.5 and 2 persons per 10,000, and is classically underdiagnosed. The abnormal vascular structures (dysplasias) can affect all the organs in the body, with a link between a physical stimulus and new lesion development. This has been established for mucosal trauma owing to nasal airflow turbulence, for ultraviolet exposure to the fingers, and for mechanical trauma to the dominant hand. Clinically it presents as:

Curaçao diagnostic criteria for HHT exist[1]. Cerebral abcess risk is increased[2].

Causes

Mutations in the transforming growth factor-beta (TGF-β) signalling pathway explain over 95% of cases:

  1. ENG
  2. ACVRL1 at 12q13.13
  3. Unknown gene at 5q31.3-q32
  4. Unknown gene at 7p14
  5. GDF2 at 10q11
  6. SMAD4 at 18q21.2
    • Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome (JPHT, OMIM:175050)


Treatment

The vascular lesions may be obliterated by laser. There are several case series suggesting that thalidomide can be effective but this might be specific mutation related, is not illogical and will likely have poor tolerability or difficult risk benefit.

References

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