Skip to main content

Table 1 Studies of prevalence of Fabry disease

From: Fabry disease

Methods

Source

Ascertainment period

Total number of cases

No. per

100000

Country and reference

Birth prevalence (number of postnatal plus prenatal enzymatic diagnoses divided by number of births)

Two centres holding all enzymatic analyses in Australia

1980-1996

36

0.85

Australia [34]

Birth prevalence (number of cases born within a certain period divided by total number of live births in the same period)

All the laboratories making pre- and postnatal diagnoses of LSDs in The Netherlands

1970-1996

27

0.21

The Netherlands [33]

Prevalence of obligate carriers

By family history, from the UK AFD register

1980-1995

60

0.29

UK (females only) [26]

Prevalence

Records from regional genetic units and enzyme reference laboratories; records from individual doctors

1980-1995

98

0.27

UK (males only) [425]

Birth prevalence (number of cases born within a certain time period divided by total number of live births in the same period)

Two main reference centres for diagnosis of sphingolipidoses by enzyme analysis of patients under 5 years suspected of LSD

1997-2002

1

0.015

Turkey [426]

Birth prevalence (number of postnatal plus prenatal enzymatic diagnoses divided by number of live births) in north Portugal

One centre providing all pre- and postnatal diagnoses of LSDs in Portugal

1982-2001

1

0.12

North Portugal [427]

Neonatal screening

Northern Italy

2004-2006

12

30

Italy [35]

Neonatal screening

Taiwan

2006-2008

73

80

Taiwan [36]