EponymGaucher's disease
Section snippets
Genetics, biochemistry, and epidemiology
Gaucher's disease is an autosomal recessive glycolipid storage disorder, caused by mutations in the β-glucocerebrosidase gene 1q21. This defect leads to reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system.1
Three clinical subtypes of Gaucher's disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel). All forms are panethnic. However, type I is more common, and
Clinical manifestations and laboratory findings
Phenotypic heterogeneity is a hallmark of Gaucher's disease. Symptomatic disease could develop at any age, but when signs and symptoms are seen in children younger than 5 years, the course of the disease is likely to be more severe than when symtoms develop at an older age. However, many patients, particularly Ashkenazi Jews, might never have any symptoms at all, or might be only mildly affected. Common presenting features include hepatosplenomegaly, anaemia, thrombocytopenia, and often bone
Clinical management
The advent of enzyme replacement therapy in the early 1990s revolutionised the management of patients with Gaucher's disease.8 After a decade of experience with alglucerase, the placental derivative, and imiglucerase, the recombinant form, the beneficial effects of enzyme replacement therapy are clear—the new treatment reduces organomegaly, improves haematological and biochemical indices, decreases bone-related pain, and induces compensatory growth in children.
Enzyme replacement therapy greatly
The man behind the disease
Gaucher's disease was first reported in 1882 by Phillipe Charles Ernest Gaucher (1854–1918) (figure 3) in his MD thesis entitled “De l'épithélioma primitif de la râte; hypertrophie idiopathique de la râte sans leucémie”. He described primary and idiopathic hypertrophy of the spleen in a young woman, which he attributed to a primary tumour of the spleen with infiltration of the normal parenchyma by large, amorphous nucleated cells. He astutely noted clinical findings of gradual massive
References (11)
- et al.
Outcome of partial splenectomy in type I Gaucher disease
J Pediatr
(1995) - et al.
Gynecologic and obstetric aspects of Gaucher's disease: a survey of 53 patients
Am J Obstet Gynecol
(1995) - et al.
Plasma and metabolic abnormalities in Gaucher's disease
Baillieres Clin Haematol
(1997) - et al.
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
Lancet
(1995) - et al.
Echocardiographic assessment of pulmonary hypertension in Gaucher's disease
Lancet
(1998)
Cited by (53)
Erdheim-Chester disease: Cytomorphologic clues for a rare histiocytic neoplasm including a distinct tigroid background pattern on smears
2022, Annals of Diagnostic PathologyCitation Excerpt :Gaucher's disease is an autosomal recessive metabolic disorder affecting the enzyme glucocerebrosidase that results in the proliferation of “Gaucher cells”. Gaucher cells are morphologically characteristic macrophages of the reticuloendothelial system with small eccentric nuclei and pale-blue fibrillary cytoplasm, sometimes referred to the appearance of crumpled paper [21-23]. A definitive diagnosis of Gaucher's disease is based on proof of reduced enzymatic activity of β-glucocerebrosidase [24].
Appendiceal involvement in a patient with Gaucher disease
2018, Blood Cells, Molecules, and DiseasesCitation Excerpt :Lysosomal storage of glucocerebroside transforms macrophages into Gaucher cells which represent the hallmark pathologic feature of GD. Gaucher disease type 3 is a chronic neuronopathic form of this disorder, characterized by neurological, visceral and bone involvement [1]. Occurrence of abdominal lymphadenopathy during the course of enzyme replacement therapy (ERT) in children with GD has been previously reported [2–4,7,8].
Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders
2016, BiochimieCitation Excerpt :G202R mutation represents type 2 GD (OMIM #230900) and L444P type 3 GD (OMIM #231000). Types 2 and 3 both show CNS involvement with type 2 being the rare, acute neuronopathic, infantile form leading to death by 2 years of age and type 3 being the chronic, subacute, juvenile form of GD [92–94]. Impaired intracellular transport and processing of glucocerebrosidase was shown to possibility influence the clinical presentation of the disease.
Hematologic Manifestations of Systemic Illness
2016, Lanzkowsky's Manual of Pediatric Hematology and OncologyClinical and paraclinical course in nine pregnancies in four patients with Gaucher disease type 1 in the hematology department of a teaching hospital
2014, Progresos de Obstetricia y GinecologiaNovel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease
2012, GeneCitation Excerpt :A positive result for the SRY gene indicated no possibility of contamination by maternal tissue. Gaucher's disease is caused by an inherited deficiency of GBA resulting in the accumulation of glucocerebroside within lysosomes of Gaucher cells (Elstein et al., 2001; Finn et al., 2000). The true incidence of perinatal Gaucher's disease may be underestimated due to misclassification as hydrops of unknown cause (Church et al., 2004; Stone et al., 1999).