SHORT INTRODUCTION: Gaucher's disease (GD) is an autosomal recessive disease 
produced by mutations of the Glucocerebrosidase gene. Carriers are considered to 
be healthy subjects because there is no manifestation of the disease, but they 
show signs of macrophage disfunction. The aim of the study was to determine if 
GD patients and non affected carriers risk suffering other diseases when 
compared to healthy non-carrier relatives.
DESIGN: Epidemiologic study of historic cohorts. The fact that they have one or 
two mutated alleles has been considered to be the risk factor leading to other 
conditions (Dementia, Parkinson disease, Ischemic stroke, Ischemic heart 
disease, Non rheumatic valvular disease, Cancer hematological and 
non-hematological, Pulmonary fibrosis, Tuberculosis, Gallstones and 
Schizophrenia). All people, patients, carriers and healthy controls shared the 
same genetical background and environmental influence. - Patients and relatives 
enrolled on the Spanish Gaucher Disease Registry were evaluated.
STATISTICS: For the Relative-Risk calculation the Mantel-Haenszel test was 
applied. Yates' correction was used when size sample was too small. A value of p 
<0.05 was accepted for statistical significance.
RESULTS: 370 people, from 79 different families, were surveyed. We received 
evaluable information from 45 families (56%), totalling 258 people (69%): 59 
healthy subjects (Mean age 32. 20, RANGE: 10-85; M 57.63%/F 42.37%), 132 
carriers (Mean age 35.91, RANGE: 1-79; M 56.82%/F 43.18%) and 67 patients (Mean 
age 32.16, Range: 1-76; M 44.78%/F 55.22%. - Relative Risk of suffering any 
disease with regard to Gaucher's status: Patient vs Healthy 9.69 (95% Confidence 
interval [CI] 2.00-63.99; p 0.0006). Patient vs Carrier 3.74 (CI 1.53-9.27; p 
0.001); Carrier vs Healthy 2.59 (CI 0. 52-12.50; p 0.21). Relative Risk of 
suffering any disease with regard to sex was 3.96 for female patients (CI 
1.01-16.75; p 0.02) and 1.34 for female carriers (CI 0.27-6.75; p = 0.68).
CONCLUSION: As a group, Gaucher's patients seem to have a greater risk of 
suffering other common unrelated diseases than carriers or healthy relatives. 
This excess of risk is particularly higher among female patients and can not be 
explained in terms of differences in age. Carrier status doesn't seem to highten 
the risk of suffering other diseases.