Shire launches the first Spanish website for health professionals fully dedicated to Fabry disease.

Madrid, January 2012.- Shire HGT, with the collaboration of Elsevier, has created the web aim Fabry, the first web site Spanish for health professionals fully dedicated to Fabry disease. The purpose is to keep informed the Community scientific on any developments on the pathology and to consult scientific evidence and share case studies and knowledge about this disease of difficult diagnosis and treatment.

The page has a bibliographic section where professionals can consult the main studies published on Fabry disease. In addition, it has featured work, an agenda where the dates on conferences and seminars where analyzes Fabry disease and a section where users can share their clinical cases are collected. Thus, the scientific community already has an interactive portal to be able to turn when you have to deal with cases of patients with Fabry disease, with option to move and share their doubts and concerns with other specialists.

Fabry disease is a minority, disease suffering from approximately 1 of every 117,000 newborns in the general population (1), and it is a disorder of Lysosomal deposit that interferes with the ability of the human body to degrade globotriaosylceramide (Gb3) due to deficiency of an enzyme (α-galactosidase A). Health professionals agree on the importance of creating multidisciplinary groups to get an early diagnosis of diseases such as these often affect different bodies. Therefore, objective Fabry is aimed at a wide range of professionals such as Nephrologists, cardiologists, neurologists, paediatricians, dermatologists and internists, since the precise disease of a multidisciplinary approach for the variety of symptoms that may occur.

Have a place online where to exchange information with other specialists in time real and in the most convenient time for the health professional, we believe that it can help to improve the diagnosis of a disease, to be of a minority nature, likely to pose a challenge to the healthcare professional facing a case of this type ”said Javier Rodriguez, Director doctor of Shire HGT.

Objective Fabry, among other benefits, will help professionals facilitate earlier diagnosis and more quickly identify the symptoms of the disease, which may have an impact in a manner very positive on the improvement of the quality of life of patients to patients suffering from this disease.

About Fabry disease

Fabry disease is a disorder of Lysosomal deposit that interferes with the ability of the human body to degrade globotriaosylceramide (Gb3) due to deficiency of an enzyme (α-galactosidase A).

Fabry disease affects both men and women and may occur through signs or symptoms and varying degree, such as cardiovascular or renal dysfunction, pain or burning, intolerance to heat, skin lesions, gastrointestinal disorders, hearing loss, problems with vision, etc.

With regard to the general population, life expectancy of patients with Fabry disease can reduce 20 years for men and 15 for women. The main causes of death are renal failure, cardiomyopathy and events stroke (e.g. stroke).

It is estimated that Fabry disease affects between 8,000 and 10,000 people around the world.

About Shire HGT

Human Genetic Therapies is the Division of the biopharmaceutical company Shire which investigated and developed treatments for genetic diseases low prevalence of rare diseases: Hunter syndrome, Gaucher disease, Fabry disease and Hereditary Angioedema. Its mission is to improve the quality of life of persons suffering from these diseases and their families and to provide innovative drugs to help them cope with their illness.

Shire focuses its activity in specific therapeutic areas to provide excellent service to patients, carers and health professionals.

Referencia:

(1) Meikle PJ, et to the. Prevalence of Lysosomal Storage Disorders. Journal of the American Medical Association 1999; 281: 249-254.