Incidence of Gaucher disease in the UK Population

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.