{"product_id":"hereditary-hemorrhagic-telangiectasia-angel-cuesta-9783036599014","title":"Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management","description":"\u003cp\u003eHereditary 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.\u003c\/p\u003e\u003cbr\u003e\u003cbr\u003e\u003cb\u003eAuthor:\u003c\/b\u003e Angel Cuesta\u003cbr\u003e\u003cb\u003eISBN-10:\u003c\/b\u003e 3036599010\u003cbr\u003e\u003cb\u003eISBN-13:\u003c\/b\u003e 9783036599014\u003cbr\u003e\u003cb\u003ePublisher:\u003c\/b\u003e Mdpi AG\u003cbr\u003e\u003cb\u003eLanguage:\u003c\/b\u003e English\u003cbr\u003e\u003cb\u003ePublished:\u003c\/b\u003e 02\/26\/2024\u003cbr\u003e\u003cb\u003ePages:\u003c\/b\u003e 132\u003cbr\u003e\u003cb\u003eFormat:\u003c\/b\u003e Hardcover\u003cbr\u003e\u003cb\u003eWeight:\u003c\/b\u003e 1.08lbs\u003cbr\u003e\u003cb\u003eSize:\u003c\/b\u003e 9.61h x 6.69w x 0.50d","brand":"Angel Cuesta","offers":[{"title":"Hardcover","offer_id":45897806020863,"sku":"9783036599014","price":66.42,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0662\/2982\/9887\/files\/img_fbd067bf-3e04-4c8a-9999-4e2cb1b602fa.jpg?v=1721374792","url":"https:\/\/www.whiterainbookhouse.com\/products\/hereditary-hemorrhagic-telangiectasia-angel-cuesta-9783036599014","provider":"WR Book House","version":"1.0","type":"link"}