VIDEO from Medialink and Shire plc: Rare Diseases Must Be Top of the Hea...(essive and life-threatening -- 80% of...),Health

-- 80% of rare diseases have genetic origins

-- They are associated with a diverse range of symptoms that vary not only

between rare diseases, but also often within a rare disease

-- Relatively common symptoms can hide underlying rare diseases - leading

to misdiagnosis

-- They often cause a high degree of psychosocial burden.

Rare diseases are often poorly understood, and patients sometimes have to wait a very long time to get a correct diagnosis. This delay can lead to the clinical worsening of the patient's physical and psychological health and can cause anxiety, depression, and feelings of isolation for the patient's family.

Case study:

Fabry Disease (also known as Anderson-Fabry Disease) is a lysosomal storage disease with an estimated birth incidence of 1 in 117,000. It can cause a wide range of symptoms, including pain, skin rashes (known as angiokeratomas), gastrointestinal complaints, and affects many internal organs including the kidneys, heart, and brain.

The disease is caused by a genetic mutation that results in a lack of, or low level or activity of, an enzyme called alpha galactosidase A (a-Gal A). This enzyme is needed by the body to break down a fatty substance called globotriaosylceramide (Gb3). Without the enzyme this fatty substance builds up in the cells throughout the body and affects their normal function.

Due to the varied nature of the symptoms and the slow progressive course of Fabry disease, there is an average delay between the onset of symptoms and diagnosis of 12 years. Life expectancy is generally reduced by 20 years in men and 15 years in women with Fabry disease, compared with the general population.

Fabry disease is one of a group of 45 similar genetic disorders, known collectively as lysosomal storage disorders.

European Rare Disease Day is designed to improve the understanding, care and treatment of these kinds of d
'/>"/>