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Musculoskeletal manifestations of Fabry disease

Discussion in 'General Issues and Discussion Forum' started by NewsBot, Dec 19, 2015.

  1. NewsBot

    NewsBot The Admin that posts the news.

    Articles:
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    Musculoskeletal manifestations of Fabry disease: A retrospective study
    Olivier Lidove et al
    Joint Bone Spine; 14 December 2015
     
  2. Admin2

    Admin2 Administrator Staff Member

    Fabry disease

    Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body including the kidneys, heart, and skin.[1] Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme which processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.

    Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females.

    The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking.

    The first descriptions of the condition were made simultaneously by the dermatologist Johannes Fabry[2] and the surgeon William Anderson[3] in 1898.[4]

    1. ^ James, Berger & Elston 2006, p. 538
    2. ^ Fabry, Joh (December 1898). "Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)". Archiv für Dermatologie und Syphilis (in German). 43 (1): 187–200. doi:10.1007/bf01986897. ISSN 0340-3696.
    3. ^ ANDERSON, WILLIAM (April 1898). "A CASE OF "ANGEIO-KERATOMA."". British Journal of Dermatology. 10 (4): 113–117. doi:10.1111/j.1365-2133.1898.tb16317.x. ISSN 0007-0963.
    4. ^ Schiffmann, Raphael (2015). Fabry disease. Handbook of Clinical Neurology. 132. pp. 231–248. doi:10.1016/B978-0-444-62702-5.00017-2. ISBN 9780444627025. ISSN 0072-9752. PMID 26564084.
     
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