Type I Gaucher's disease: clinical, evolutive and therapeutic features in 8 cases

PURPOSE
To analyse the clinical features, course and treatment of a group of patients with type I Gaucher's disease.

PATIENTS AND METHODS
The study comprises 8 patients diagnosed in childhood or young age, except for one, diagnosed in adulthood. The follow-up ranges from 1 to 26 years (mean, 15 years). The diagnosis was usually established by identification of Gaucher cells in the bone marrow or other tissues; enzyme and genotype studies were performed in 5 cases. In the patients receiving substitutive therapy with Alglucerase the dosage was 5 U/kg/day twice a week (2 cases) or 30 U/Kg every second week (1 case).

RESULTS
The mean age of the patients at diagnosis was 22 years (range, 4-52) and the M/F ratio was 1.0. Splenectomy was carried out in 5 of the 8 cases between 2 months and 13 years since diagnosis, because of severe cytopenia due to hypersplenism; severe haemorrhage appeared in two cases.

Prophylactic antibiotics against capsulated germs were given to all the patients undergoing splenectomy, no infectious episodes appearing in their clinical course. Lipid deposition hepatomegaly was present in 7 cases, ranging between 2 and 20 cm.; Gaucher cells and fibrosis were seen in liver biopsies. Skin involvement was present in one case, and pingueculae in 6. Bone lesions were seen in 5 patients. Neurological manifestations were absent in every case. Positive serology for CVH was found in 3 cases and for BVH in one other.

Alglucerase treatment: Striking clinical improvement was seen six months after starting this therapy, hepatomegaly being reduced in 9 cm in case No 1, while pain and hip dysfunction subside in case No 2 and blood cell counts recovered in case No 3. No adverse side-effects were appreciated with this treatment. COMMENTS Gaucher's disease is an unusual disorder, with ill-defined incidence in our environment. The commonest symptoms include cytopenia and/or visceromegalia.

The clinical course is usually torpid, with high morbidity requiring hospitalization due to haemorrhage, surgery or bone complications in most cases. Better long-term prognosis can presently be expected in view of the good response to substitutive therapy.

In order to establish an adjusted evaluation of the disease and its economic implications, a national registry would be desirable, thus allowing us to know the actual incidence and to make plans for successful Alglucerase treatment, taking into account the high costs of this last.

CITATION  Sangre (Barc). 1994 Feb;39(1):3-7