{"product_id":"hereditary-hemorrhagic-telangiectasia-diagnosis-and-management-hardcover","title":"Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management - Hardcover","description":"\u003cdiv\u003e\u003cp style=\"text-align: right;\"\u003e\u003ca href=\"https:\/\/reportcopyrightinfringement.com\/\" target=\"_blank\" rel=\"nofollow\"\u003e\u003cb\u003eReport copyright infringement\u003c\/b\u003e\u003c\/a\u003e\u003c\/p\u003e\u003c\/div\u003e\u003cp\u003eby \u003cb\u003eAngel Cuesta\u003c\/b\u003e (Guest Editor)\u003c\/p\u003e\u003cp\u003e\u003c\/p\u003e\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\n            \u003cdiv\u003e\n\u003cstrong\u003eNumber of Pages:\u003c\/strong\u003e 132\u003c\/div\u003e\n            \u003cdiv\u003e\n\u003cstrong\u003eDimensions:\u003c\/strong\u003e 0.5 x 9.61 x 6.69 IN\u003c\/div\u003e\n            \u003cdiv\u003e\n\u003cstrong\u003ePublication Date:\u003c\/strong\u003e February 26, 2024\u003c\/div\u003e\n            ","brand":"BooksCloud","offers":[{"title":"Default Title","offer_id":48092132966659,"sku":"9783036599014","price":1000.21,"currency_code":"NOK","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0588\/9310\/7359\/files\/15PbMJDSwJ9783036599014.webp?v=1778331795","url":"https:\/\/annizon.com\/en-no\/products\/hereditary-hemorrhagic-telangiectasia-diagnosis-and-management-hardcover","provider":"annizon.com","version":"1.0","type":"link"}