Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease

Anderson Fabry disease is a progressive and debilitating lysosomal storage disorder resulting from a deficiency of a lysosomal enzyme and progressive accumulation of storage material. It affects both males and females and can result in significant pain, bowel symptoms, hearing loss, rash and reduced life expectancy from renal failure, heart disease and stroke. A treatment is available with enzyme replacement therapy however it has previously not been possible to predict which patients may have most problems in the long term. This study has used a large database of Fabry patients to examine the factors which might be able to determine which patients will have cardiac, renal, neurological events. We have developed a simple scoring system based on routinely acquired clinical parameters. These scores have been used to divide patients into different groups with significantly different clinical outcomes. We hope that this will be useful for counselling of patients with respect to their condition, initiation of treatment and stratifying patients for the development of new treatments. (By Dr Derralynn A Hughes, http://jmg.bmj.com/content/early/2012/02/06/jmedgenet-2011-100407 )