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SP0220 Peer and Research Support in Rare Diseases – A CASE Study from the AKU Society
  1. L. Wagner
  2. on behalf of International AKU Societies
  1. DSAKU e.V., International AKU-Societies, Stuttgart, Germany

Abstract

Alkaptonuria (AKU) is an ultra-rare inheritable metabolic disease resulting in a 2000-fold accumulation of the intermediate product homogentisic acid (HGA). Oxidation of HGA by air or within the connective tissue causes darkening of the urine, pigmentation of eyes and ears, kidney- and prostrate-stones, aortic stenosis, but most severely an early onset of osteoarthritis called ochronotic arthropathy (ochronosis) due to blackening of the cartilage. Ochronosis is very painful, disabling and progresses very rapidly. It starts in the third decade with the spine and affects the large joints in the fourth decade with patients frequently requiring several joint replacements between the fifth and sixth decade. Like many of the more than 400 rare rheumatic and musculoskeletal diseases (RMD's), AKU-patients undergo a long odyssey of several years until their diagnosis and experience few medical treatments as little information is available. Thus, AKU-patients often feel isolated from society as well as medical and governmental support due to lack of understanding. Hence, peer support and research has become indispensable for the physical and psychological well-being of AKU-patients. Research of the natural history of AKU at the NIH (USA), Piestany and Bratislava (Slovakia), Liverpool (UK), Siena (Italy) and Vellore (India) has given a better understanding of the cause and progress of the disease. Establishing AKU-societies in UK (AKU-Society Ltd), France (ALCAP), Italy (AimAKU), USA & Canada (AKU Society of North America), Germany (DSAKU e.V.) as well as Slovakia, Netherlands, Jordan, Belgium and India enable national peer support, with AKU-Patient workshops being extremely well received. Social media such as internet, facebook and forums supply information and enable exchange and advice between patients on an international platform. Based on knowledge and experience, the national organisations of PARE are able to give local advice and practical support on pain management, exercises, working with osteoarthritis and social benefits, while in return the AKU-Societies supply information on the disease and special needs of AKU-Patients. Events such as world arthritis day and rare disease day give the opportunity to raise public awareness within society. International conferences such as EULAR and ECRD allow medical experts and scientist to have access on the differential diagnostics of AKU. Finally the overall network enables the development of a treatment for AKU-patients.

Disclosure of Interest None declared

DOI 10.1136/annrheumdis-2014-eular.6233

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