[Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease].
OBJECTIVE
To evaluate the efficacy of the treatment with alglucerase (Ceredase) in spanish patients diagnosed of Gaucher disease type 1 (GD).


METHODS
A national inquiry has been performed among the hospitals with GD's patients on therapy. A form including pretherapy haemoglobin, platelet levels, liver and spleen size and bone lesions was submitted to the participating centers. A quarterly follow-up was requested. Descriptive statistics and frequency distribution analysis were performed through a Statview 4.02 database.


RESULTS
Participating centers 22; evaluable patients 34. The mean age at diagnosis was 18.9 +/- 12.7 years, being the M/F ratio 0.47. Organomegaly was present in 88.2% and 70.5% had bone disease. Low haemoglobin levels (< 110 g/L) had detected in 48.6%, leucopenia (< 4.0 x 10(9)) were in 36.6% and low platelet level (< 15.0 x 10(9)) in 73.2%. The most frequent mutations observed were N370S (39.7% of the alleles detected), and L444P(20.4%). Time on therapy: between 6-12 months, 18 patients, > 1 year 16 patients, > 2 years 11 (5 reaching 3 years). Dosage schedulle:a) 10-20 U/Kg/week, 8 cases, b) 30-60 U/Kg/ two weeks, 26 cases. Eight patients were splenectomized before therapy. After one year on therapy haemoglobin and platelet levels become normal in 82.3% and 47.0% of patients respectively and the liver and spleen size were reduced 66 and 42%. There are not significant differences among weekly (8 patients) or forthnightly (26 patients) dosages except in the spleen size more reduced in the later group (43% vs 65%). Haemoglobin and platelet levels were similar among splenectomized or non-splenectomized patients, but the reduction of the liver size (80 vs 17%) was significatively greater in the former. One patient developed an asymptomatic antialglucerase antibody during the first month on therapy.


CONCLUSIONS
The infusion of alglucerase is effective in the treatment of the GD type 1, with a significant reduction of organomegalies and a definite improvement in haemoglobin and platelet levels. The efficacy seems to be unrelated with the schedule employed or the splenic removal; nevertheless liver enlargement was more reduced in the splenectomized cases and the spleen size among the patients with the regimen of "high dose/low frequence". Bone healing requires a very long time therapy. The treatment is safe and the antibody production low.
Pérez-Calvo
J I
JI
Servicio de Medicina Interna B2 Hospital Clínico Universitario, Zaragoza. jiperez@posta.unizar.es
Giraldo
P
P
Giralt
M
M
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D015331:Cohort Studies; D003131:Combined Modality Therapy; D004341:Drug Evaluation; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000145:classification / Q000188:drug therapy* / Q000453:epidemiology / Q000473:pathology / Q000601:surgery; D005962:Glucosylceramidase / Q000172:deficiency / Q000627:therapeutic use*; D006454:Hemoglobins / Q000032:analysis; D006529:Hepatomegaly / Q000188:drug therapy / Q000473:pathology; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D010976:Platelet Count / Q000187:drug effects; D012042:Registries; D013030:Spain / Q000453:epidemiology; D013156:Splenectomy; D013163:Splenomegaly / Q000188:drug therapy / Q000473:pathology / Q000601:surgery
D006454:Hemoglobins; C070292:alglucerase; D005962:Glucosylceramidase