Incidence of Gaucher disease in the UK Population


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Type 1 can display many symptoms including enlarged spleen and liver, bleeding and bruising problems, and bone pain, demineralisation and fractures. These symptoms may vary from mild to severe and may appear at any age (or never appear at all). However in general the earlier the patient shows symptoms, the more severe the progression of the disease is likely to be. Despite this, the vast majority of sufferers can expect to reach old age.

Type 2 is fatal; the infant is very unlikely to live beyond the first few years.

Type 3 shows the same symptoms as Type 1 at an early age and will progress to show neurological symptoms during childhood. These may include eye movement abnormality, unsteadiness and loss of skills. Some Type 3 sufferers have only slight brain impairment but develop severe disease in the liver, spleen and bone marrow.


The Incidence of Gauchers disease in the UK

Type 1: One in 100,000 of the general population may have inherited a "Gaucher's gene" from both parents. However of these, only 40% will show symptoms of the disease, varying from mild to severe. This gives an incidence of 1 in 250,000 in the general population with any symptoms. (Genzyme)

In the Ashkenazi Jewish community, 1 in 850 is believed to have inherited genetic markers (mutations) for the disease but only 25% of these will show any symptoms, thus giving an incidence of 1 in 3,400. (Zimran)

59 million people live in the UK of whom 300,000 are of Ashkenazi origin. Therefore there are estimated to be about 235 sufferers in the general population and 90 in the Ashkenazi community who will have symptoms, making a total of 325 sufferers. However given these statistics, there are another 620 (355 from the general population and 265 Ashkenazi) people with the genetic markers for the disease who will not show any symptoms throughout their life.

Type 2: The incidence of Type 2 is very rare - perhaps one or two births a year.

Type 3: The incidence of Type 3 is also very rare in the UK, perhaps two or three births a year. The incidence appears to be more frequent in parts of Sweden, Spain and Japan.


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Source: Genetic Testing Screening and Counselling, February1999