title: The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
abstract: BACKGROUND
  Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.
  
  
  METHODS
  All patients with known GD, living in France, with ≥ 1 consultations (1980-2010), were included in the French GD registry, yielding the following 4 groups: the entire cohort, with clinical description; and its subgroups: patients with ≥ 1 follow-up visits, to investigate complications; recently followed (2009-2010) patients; and patients treated during 2009-2010, to examine complications before and during treatment. Data are expressed as medians (range) for continuous variables and numbers (%) for categorical variables.
  
  
  RESULTS
  Among the 562 registry patients, 265 (49.6%) were females; 454 (85.0%) had type 1, 22 (4.1%) type 2, 37 (6.9%) perinatal-lethal type and 21 (3.9%) type 3. Median ages at first GD symptoms and diagnosis, respectively, were 15 (0-77) and 22 (0-84) years for all types. The first symptom diagnosing GD was splenomegaly and/or thrombocytopenia (37.6% and 26.3%, respectively). Bone-marrow aspiration and/or biopsy yielded the diagnosis for 54.7% of the patients, with enzyme deficiency confirming GD for all patients. Birth incidence rate was estimated at 1/50,000 and prevalence at 1/136,000. For the 378 followed patients, median follow-up was 16.2 (0.1-67.6) years. Major clinical complications were bone events (BE; avascular necrosis, bone infarct or pathological fracture) for 109 patients, splenectomy for 104, and Parkinson's disease for 14; 38 patients died (neurological complications for 15 type-2 and 3 type-3 patients, GD complications for 11 type-1 and another disease for 9 type-1 patients). Forty-six had monoclonal gammopathy. Among 283 recently followed patients, 36 were untreated and 247 had been treated during 2009-2010; 216 patients received treatment in December 2010 (126 with imiglucerase, 45 velaglucerase, 24 taliglucerase, 21 miglustat). BE occurred before (130 in 67 patients) and under treatment (60 in 41 patients) with respective estimated frequencies (95% CI) of first BE at 10 years of 20.3% (14.1%-26.5%) and 19.8% (13.5%-26.1%).
  
  
  CONCLUSIONS
  This registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment.
authors.affiliation: INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France. jerome.stirnemann@gmail.com
authors.forename: Jérôme
authors.initials: J
authors.lastname: Stirnemann
authors.forename: Marie
authors.initials: M
authors.lastname: Vigan
authors.forename: Dalil
authors.initials: D
authors.lastname: Hamroun
authors.forename: Djazia
authors.initials: D
authors.lastname: Heraoui
authors.forename: Linda
authors.initials: L
authors.lastname: Rossi-Semerano
authors.forename: Marc G
authors.initials: MG
authors.lastname: Berger
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
authors.forename: Fabrice
authors.initials: F
authors.lastname: Camou
authors.forename: Christine
authors.initials: C
authors.lastname: de Roux-Serratrice
authors.forename: Bernard
authors.initials: B
authors.lastname: Grosbois
authors.forename: Pierre
authors.initials: P
authors.lastname: Kaminsky
authors.forename: Alain
authors.initials: A
authors.lastname: Robert
authors.forename: Catherine
authors.initials: C
authors.lastname: Caillaud
authors.forename: Roselyne
authors.initials: R
authors.lastname: Froissart
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
authors.forename: Agathe
authors.initials: A
authors.lastname: Masseau
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
authors.forename: Dries
authors.initials: D
authors.lastname: Dobbelaere
authors.forename: Marie T
authors.initials: MT
authors.lastname: Vanier
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayanopoulos
authors.forename: Olivier
authors.initials: O
authors.lastname: Fain
authors.forename: Bruno
authors.initials: B
authors.lastname: Fantin
authors.forename: Thierry Billette
authors.initials: TB
authors.lastname: de Villemeur
authors.forename: France
authors.initials: F
authors.lastname: Mentré
authors.forename: Nadia
authors.initials: N
authors.lastname: Belmatoug
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005602:France / Q000453:epidemiology; D005776:Gaucher Disease / Q000150:complications / Q000453:epidemiology* / Q000473:pathology / Q000628:therapy; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D013156:Splenectomy; D055815:Young Adult