Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy

Grosbois, B.; Rosé, Christian; Noël, E.; Serratrice, J.; Dobbelaere, Dries; Gressin, Virginie; Chérìn, P.; Hartmann, Andréas; Javier, R.-M.; Clerson, Pierre; Hachulla, É.; Jaussaud, R.

doi:10.1016/j.bcmd.2009.04.002

Cited by 25 publications

(22 citation statements)

References 11 publications

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“…Among the 378 followed patients, 46 (12.2%) had MG, a rate within the previously reported range (1% [42] to 35% [45]), and median gamma globulinemia at ERT/SRT onset in recently treated patients was 21.7 g/L. Usually, MG is unaffected by ERT [43,44]. However, for patients whose MG was diagnosed under treatment, no pretreatment evaluation was available, and MG had probably been present at treatment onset.…”

Section: Discussionmentioning

confidence: 66%

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

Stirnemann

Vigan

Hamroun

et al. 2012

Orphanet J Rare Dis

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BackgroundClinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.MethodsAll 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.ResultsAmong 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%).ConclusionThis registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment.

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Section: Discussionmentioning

confidence: 66%

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

Stirnemann

Vigan

Hamroun

et al. 2012

Orphanet J Rare Dis

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111

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“…The post-marketing surveillance program of miglustat has not generated any further adverse drug reactions relating to the nervous system (Pastores et al 2009). In our cohort, peripheral neuropathy was associated with a monoclonal IgG Kappa gammopathy in three patients (two MGUS and one chronic lymphocytic leukemia) (Brautbar et al 2004;de Fost et al 2008;Pinkhas et al 1965); an association previously described in the literature (Grosbois et al 2009;Ramchandren and Lewis 2009). Three of these five patients with peripheral neuropathy did not receive miglustat.…”

Section: Gd1 and Peripheral Neuropathymentioning

confidence: 77%

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

Chérìn

Rosé

Serratrice

et al. 2010

J of Inher Metab Disea

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“…As an increased frequency of gammopathy has also been described in GD1, close analysis of imaging data such as plain thoracolumbar radiographs or spine MRI should be conducted to better define the underlying pathoetiology of any observed collapse and to implement specific treatment [25]. This was illustrated in particular in the case of one patient in the current study, who had histologically proven vertebral myelomatous infiltration.…”

Section: Discussionmentioning

confidence: 99%

Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG)

et al. 2010

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Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy

Cited by 25 publications

References 11 publications

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG)

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