Hereditary Hemorrhagic Telangiectasia
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Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia


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About the Book

Hereditary Hemorrhagic Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5,000 - 10,000 people. The diagnosis of HHT, as a rare disease, follows the Curaçao Diagnostic Criteria: Nosebleeds (epistaxis), whether spontaneous or recurrent; (multiple) telangiectases at characteristic sites, including the lips, oral cavity, fingers and nose; Internal lesions: arteriovenous malformations (AVMs) or telangiectases in the stomach, lungs, liver, brain and spinal cord; Family history: a first-degree relative with HHT, according to these criteria. When a patient meets at least three of these criteria, it is considered definite that they have HHT. Nowadays, three subtypes of HHT have been identified. HHT type 1 refers to mutations on the endoglin gene ENG; HHT type 2 refers to mutations on the activin A receptor-like type 1 (ACVRL1) gene; and the third one, named juvenile polyposis-hereditary hemorrhagic telangiectasia (JPHT or JPHHT) overlap syndrome, refers to mutations on the gene MADH 4. There are two other subtypes (HHT-3 and 4) in which the mutations have not yet been completely identified, but they are known to be located on the 5q31.3-q32 and 7p14 chromosomal regions, respectively.


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Product Details
  • ISBN-13: 9783036599014
  • Publisher: Mdpi AG
  • Publisher Imprint: Mdpi AG
  • Height: 244 mm
  • No of Pages: 140
  • Spine Width: 13 mm
  • Weight: 539 gr
  • ISBN-10: 3036599010
  • Publisher Date: 26 Feb 2024
  • Binding: Hardback
  • Language: English
  • Returnable: N
  • Sub Title: Diagnosis and Management
  • Width: 170 mm


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