Research
The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
1 INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance PubliqueHôpitaux de Paris (AP–HP), Paris, France
2 Univ Paris-Diderot, Sorbonne Paris Cité, Paris, France, INSERM, UMR, Paris, 738, France
3 Referral Center for Lysosomal Diseases (RCLD), Paris, France
4 Hôpitaux Universitaires Paris Seine–Saint-Denis, AP–HP Service de Médecine Interne, Hôpital Jean-Verdier, Université, Paris XIII, Bondy, France
5 Laboratoire de Génétique Moléculaire CHU Montpellier, Hôpital Arnaud-de-Villeneuve, Montpellier, France
6 Service de Médecine Interne, Hôpital Beaujon, AP–HP, Clichy, France
7 Service de Pédiatrie et Pédiatrie Rhumatologique, Hôpital de Bicêtre, AP–HP, National Reference Center for Auto-Inflammatory Diseases, Université de Paris Sud, Le Kremlin–Bicêtre, France
8 Service d'Hématologie Biologique–Immunologie, CHU Estaing, Clermont-Ferrand, France
9 Service d’Hématologie, Hôpital Saint-Vincent-de-Paul, Lille, France
10 Service de Réanimation Médicale, CHU Saint-André, Bordeaux, France
11 Service de Médecine Interne, Hôpital Saint-Joseph, Marseille, France
12 Service de Médecine Interne, Etablissements Nord Sud, Site Hôpital Sud, Rennes, France
13 Service de Médecine Interne, CHU de Nancy, Hôpitaux de Brabois, Vandoeuvre, France
14 Service de Pédiatrie, Hôpital des Enfants, Toulouse, France
15 Laboratoire de Génétique, Hôpital Cochin, Paris, France
16 Centre de Biologie Est, Hospices Civils de Lyon, Bron, France
17 Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
18 Service de Médecine Interne, CHU Hôtel-Dieu, Nantes, France
19 Unité Fonctionnelle de Génétique Clinique, Groupe Hospitalier Pitié–Salpêtrière, AP–HP, Paris, France
20 Service de Neuropédiatrie et Pathologie du Développement, Hôpital Armand-Trousseau, AP–HP, Université Pierre-et-Marie-Curie UPMC, Paris, France
21 Département de Neurologie, Hôpital Pitié–Salpêtrière, AP–HP, Paris, France
22 Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte, Hôpital Jeanne-de-Flandre, Lille, France
23 INSERM U 820, Faculté de Médecine Lyon-Est Claude-Bernard, Lyon, France
24 Centre de Référence Maladies Métaboliques de l'Enfant et de Adulte (MaMEA), Hôpital Necker-Enfants Malades et Université Paris, Descartes, Paris, France
25 Hôpitaux Universitaires de Genève, Service de Médecine Interne Générale, Rue Gabrielle-Perret-Gentil 4, CH-1211, Genève 14, Suisse
Orphanet Journal of Rare Diseases 2012, 7:77 doi:10.1186/1750-1172-7-77
Published: 9 October 2012Abstract
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%).
Conclusion
This registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment.
