A reappraisal of Gaucher disease—diagnosis and disease management algorithms

A Rare Condition in Haematological Practice – Gaucher Disease

“…28,37 Concerns about safety of treatments may also account for this delay. Enzyme testing diagnosis of Gaucher disease is unequivocal; however, Gaucher disease is rare with a non-specific and heterogeneous manifestations, and minor overt symptomatology at onset, all of which hinders consideration of the disease in differential diagnosis.…”

“…28 In the publication containing the algorithms, which expands on ancillary concerns, the authors highlighted that it is advisable to test for Gaucher disease as a first-line investigation in patients of Ashkenazi Jewish ethnicity presenting with splenomegaly and cytopenia. The most common genotype in this ethnic group, N370S homozygosity, is frequently characterised by mild cytopenia and splenomegaly that may be difficult to detect, therefore ancillary information is helpful, including hyperferritinaemia, low high-density lipoprotein (HDL) cholesterol, premature gallstones or osteoporosis and gammopathy (see Figure 2A).…”

“…15,[25][26][27][28] Nearly 300 mutations have been identified, including frameshift mutations, point mutations, deletions, insertions and splice site mutations. 29 Four mutations N370S (c.1226A>G), L444P (C.1448T>C), 84GG (-c.84dupG) and IVS2+1 (c.27+1G>A) account for approximately 90 % of the disease causing alleles in the Ashkenazi Jewish population.…”

Evaluation of Enzyme Replacement Therapy Effectiveness in Children With Gaucher’s Disease According to the International Studies

“…Use of initial doses of 60 U/kg of body weight once per 2 weeks resulted in improvement of hematological and visceral parameters and subsequently led to interrupted progress or decrease in the pronounced bone disorders. Reactions to the drug's administration are associated with generation of antibodies against the administered protein, although they are not constant and may be arrested with the standard means [11,12].…”

Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population

“…At his presentation with right leg mass, the mass and bone pain had been present for the previous 6 months and had worsened until the patient could no longer continue his daily activities. At this time in 1992, enzyme replacement therapy had not yet become the standard of care for GD.Gaucher disease, an autosomal recessive disorder, is a prototype inborn error of metabolism due to biallelic mutations in GBA1 that results in deficiency of lysosomal acid b-glucocerebrosidase, a key enzyme in the degradation pathway of membrane glycosphingolipids [2]. GD displays a heterogeneous clinical presentation affecting multiple organs with major skeletal involvement based on the accumulation of glucocerebroside-laden macrophages, eponymously known as Gaucher cells [3].…”