Fabry disease and the skin: data from FOS, the Fabry outcome survey


  • Conflicts of interest
    C.H.O. has received honoraria and expenses for speaking engagements from Shire Pharmaceuticals. G.S.P. has received travel grants, speaking honoraria, and clinical research funding from TKT Europe SS/Shire Human Genetic Therapies. M.B. has received unrestricted scientific grants from Shire Human Genetic Therapy. A.B.M. has received honoraria and expenses for speaking engagements and has also receieved research funding from Shire Pharmaceuticals. R.J. has acted as a paid consultant to Shire Human Genetic Therapies Inc. and has received funding to attend and participate in lectures and congresses regarding this specific research and for research carried out in his work. O.L. has received support from TKT Europe AB (Shire Human Genetics, Basingstoke, UK), Actelion Pharmaceuticals Ltd and travel grants from Genzyme Corporation.

C.H. Orteu.
E-mail: cate.orteu@royalfree.nhs.uk


Background  Fabry disease (also known as Anderson–Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.

Objectives  To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.

Methods  We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.

Results  We confirm that the commonest disease manifestation is angiokeratoma. Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females). We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system. Although the condition is X linked, there is a surprisingly high prevalence of abnormalities in females.

Conclusions  The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.