title: Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
abstract: BACKGROUND
  Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.
  
  
  METHODS
  We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We analysed geographical distribution, demographic, genetic and clinical data, age at diagnosis, type, and years of therapy in 436 GD patients from the IP.
  
  
  RESULTS
  The prevalence of GD was 1/149,000 inhabitants; 88.3% were type 1, 6.7% type 2, and 5.0% type 3. The mean age at diagnosis in type 1 was 28.7 years. A total of 72.7% were classified as having mild forms, 25.5% moderate, and 1.7% severe. Anemia and thrombocytopenia were present in 56% and 55%, respectively. Bone disease and hepatomegaly were reported in 62% and 68%, respectively, and were more likely in asplenic than in non-splenectomized patients. Sixty-nine mutant alleles were identified, and five mutations accounted for 75% of the GBA alleles. Several patients described in our series had interesting phenotypes. A total of 58.7% of patients had received enzyme replacement therapy and 12.6% were treated with miglustat.
  
  
  CONCLUSIONS
  A broad spectrum of GBA mutations is present in the IP, with 98.2% of type 1 GD being mild and 23.0% never treated. These data highlight genetic and phenotypic heterogeneities among geographic populations.
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain. giraldo.p@gmail.com
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
authors.forename: Pilar
authors.initials: P
authors.lastname: Irún
authors.forename: Laura
authors.initials: L
authors.lastname: Gort
authors.forename: Amparo
authors.initials: A
authors.lastname: Chabás
authors.forename: Lluïsa
authors.initials: L
authors.lastname: Vilageliu
authors.forename: Daniel
authors.initials: D
authors.lastname: Grinberg
authors.forename: Clara M
authors.initials: CM
authors.lastname: Sá Miranda
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocovi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D055815:Young Adult