Gaucher’s disease: report of 11 cases with review of literature

Abstract

Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year retrospective study of 11 patients with GD followed-up in the department of paediatric hepatology gastroenterology and nutrition of Rabat children's Hospital. We observed 11 patients with GD: 6 males and 5 females. Age at onset ranged from 3 months to 10 years with an average of 3.41 years. Mean age at diagnosis was 4 years (range 3months-14years). Parental consanguinity was noted in 85% cases. According to the clinical presentation, we classified our patients into: 9 cases of type 1 (81%) and two cases of type 2 (19%), none of the patients presented GD type 3. GD type 1: The age at diagnosis ranged from 2 years to 14 year with an average of 6 years. Main symptoms were: splenomegaly, hepatomegaly, pallor, haemorrhagic appearance (40%), bone pain (40%). The diagnosis was based on histology showing the Gaucher's cells in various tissues (100%). Enzymatic activity dosage confirmed the diagnosis of GD for 4 patients (44.5%). The treatment was always symptomatic (analgesics, transfusion). A splenectomy was performed in one case presenting with multiple splenic abscesses and high transfusion requirements. None of the patients received a specific treatment (substitutive enzymotherapy). The follow-up period ranged from 3 months to 6 years with an average follow-up of 4 years. We noticed stability in 4 cases, 2 worsening cases with bone and spleen complications. Three patients were lost to follow-up. GD type 2: we observed two cases of GD type 2 diagnosed at 3 and 18 months. The visceral symptoms were serious and the neurological features included seizures, hypertony, squint, physical developmental milestones delay. Both of them died. Gaucher's disease is not exceptional in Morocco. Type 1 is the most common type. We noted through this study some diagnostic difficulties as the diagnosis was delayed and the enzymatic dosage was performed in only 42% of the cases as well as therapeutic difficulty with no prescription of the specific treatment given the high cost of the enzyme.

Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher�s Disease

“…Due to a series of mutations at the GBA (Glucosylceramide Beta) gene, which is localized at the chromosome 1q21., patients develop a lack of β-glucocerebroside (acid-β-glucosidase) enzyme coded by the gene. Because of this lack, patients exhibit an excessive accumulation of lypid glucocerebroside at the lysosomes of their macrophages (2,3). The disease is divided into three clinical types.…”

Gaucher's disease in a patient presenting with hip and abdominal pain

“…If rapid splenic growth occurs in adulthood, hematological malignancy and autoimmune hemolytic anemia must be investigated. 6 Splenectomy is currently used in the treatment of a limited number of patients. This is due to the possibility of post-splenectomy complications and cell infiltration in bone marrow.…”

“…The most commonly af-fected bone is the femur, and the most common lesions are osteopenia, osteonecrosis, osteosclerosis and bone infarcts. 6 Chronic mild joint pain or severe pain mimicking sickle cell anemia may occur. Infarcts cause an acutely painful condition known as bone crisis by increasing intraosseous pressure.…”

Gaucher disease epidemiology and natural history: a comprehensive review of the literature

“…In an 11-year retrospective Moroccan study published in 2015, nine patients (81%) had GD1 and two (19%) had GD2 [44]. All these studies, none of which emanated from the Far or non-Israeli Middle East where GD2 and GD3 phenotypes are more prevalent than in Western countries, suggest that a greater proportion of patients worldwide have neuronopathic GD than the 6% reported from the ICGG Gaucher Registry.…”

“…In one study, age at GD1 diagnosis was reported by genotype: mean age at diagnosis was older than 10 years for patients with genotypes N370S/?, N370S/N370S, N370S/L444P, and N370S/rare allele; age at diagnosis of younger than 10 years was reported in patients with N370S/ 84GG, L444P/L444P, L444P/?, and N370S/IVS2+1 genotypes all of which are often associated with severe GD symptomatology [3]. Three additional studies reported a mean age at diagnosis ranging from 6 years in the Moroccan study of 11 patients to 50 years in 93 patients from South Florida included in the ICGG Gaucher Registry [43,44]; the Moroccan study also identified two cases of GD2 diagnosed at 3 months and 18 months, respectively; age at diagnosis of seven GD3 cases ranged from 10 months to 2 years and 7 months in a study of Taiwanese patients [58]. In a multinational observational study (24-month study duration) enrolling all non-Ashkenazi patients (who had been seen for a hematological evaluation), the mean age at diagnosis was 32.6 years [60].…”