A rare condition in haematological practice - Gaucher disease

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gaucher disease type 1 should be considered in cases of unexplained splenomegaly with or without bleeding diathesis, skeletal manifestations or hepatomegaly. Diagnosis is made by demonstrating decreased glucocerebrosidase activity in peripheral blood leucocytes. Dried blood spots can be used for screening but conventional enzyme assay on heparinised blood is essential. Patients with Gaucher disease may have extensive organ involvement despite relatively minor overt symptomatology. Evidence suggests that Gaucher disease may remain undiagnosed for years, leading to severe complications that are preventable or reversible with enzyme replacement therapy. These complications include avascular necrosis, severe bleeding, chronic bone pain, pathological fractures, growth failure, liver pathology and life-threatening sepsis. Most patients with Gaucher disease are initially evaluated by a haematologist-oncologist. Improved education is needed to enable prompt detection of Gaucher disease. An increased risk of multiple myeloma and haematological and non-haematological malignancies has been reported in type 1 Gaucher disease. This review aims to offer familiarisation with a rare disorder in haematological practice, focusing on adult patient management.

Original languageEnglish
Pages (from-to)15-20
Number of pages6
JournalEuropean Oncology and Haematology
Volume11
Issue number1
DOIs
Publication statusPublished - Jun 1 2015

Fingerprint

Gaucher Disease
Glucosylceramidase
Hemorrhage
Lysosomal Storage Diseases
Enzyme Replacement Therapy
Spontaneous Fractures
Hepatomegaly
Disease Susceptibility
Splenomegaly
Liver Failure
Enzyme Assays
Multiple Myeloma
Chronic Pain
Sepsis
Leukocytes
Necrosis
Pathology
Education
Bone and Bones

Keywords

  • Cancer
  • Diagnosis
  • Gaucher disease
  • Glucocerebrosidase
  • Haematological malignancy
  • Monoclonal gammopathy of undermined significance (MGUS)
  • Multiple myeloma
  • Splenomegaly
  • Thrombocytopenia

ASJC Scopus subject areas

  • Hematology
  • Oncology

Cite this

A rare condition in haematological practice - Gaucher disease. / Cappellini, Maria Domenica.

In: European Oncology and Haematology, Vol. 11, No. 1, 01.06.2015, p. 15-20.

Research output: Contribution to journalArticle

@article{d5c7df88eca94a82acfd52daaf43fe3b,
title = "A rare condition in haematological practice - Gaucher disease",
abstract = "Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gaucher disease type 1 should be considered in cases of unexplained splenomegaly with or without bleeding diathesis, skeletal manifestations or hepatomegaly. Diagnosis is made by demonstrating decreased glucocerebrosidase activity in peripheral blood leucocytes. Dried blood spots can be used for screening but conventional enzyme assay on heparinised blood is essential. Patients with Gaucher disease may have extensive organ involvement despite relatively minor overt symptomatology. Evidence suggests that Gaucher disease may remain undiagnosed for years, leading to severe complications that are preventable or reversible with enzyme replacement therapy. These complications include avascular necrosis, severe bleeding, chronic bone pain, pathological fractures, growth failure, liver pathology and life-threatening sepsis. Most patients with Gaucher disease are initially evaluated by a haematologist-oncologist. Improved education is needed to enable prompt detection of Gaucher disease. An increased risk of multiple myeloma and haematological and non-haematological malignancies has been reported in type 1 Gaucher disease. This review aims to offer familiarisation with a rare disorder in haematological practice, focusing on adult patient management.",
keywords = "Cancer, Diagnosis, Gaucher disease, Glucocerebrosidase, Haematological malignancy, Monoclonal gammopathy of undermined significance (MGUS), Multiple myeloma, Splenomegaly, Thrombocytopenia",
author = "Cappellini, {Maria Domenica}",
year = "2015",
month = "6",
day = "1",
doi = "10.17925/EOH.2015.11.01.15",
language = "English",
volume = "11",
pages = "15--20",
journal = "European Oncology and Haematology",
issn = "2045-5275",
publisher = "Touch Digital Media",
number = "1",

}

TY - JOUR

T1 - A rare condition in haematological practice - Gaucher disease

AU - Cappellini, Maria Domenica

PY - 2015/6/1

Y1 - 2015/6/1

N2 - Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gaucher disease type 1 should be considered in cases of unexplained splenomegaly with or without bleeding diathesis, skeletal manifestations or hepatomegaly. Diagnosis is made by demonstrating decreased glucocerebrosidase activity in peripheral blood leucocytes. Dried blood spots can be used for screening but conventional enzyme assay on heparinised blood is essential. Patients with Gaucher disease may have extensive organ involvement despite relatively minor overt symptomatology. Evidence suggests that Gaucher disease may remain undiagnosed for years, leading to severe complications that are preventable or reversible with enzyme replacement therapy. These complications include avascular necrosis, severe bleeding, chronic bone pain, pathological fractures, growth failure, liver pathology and life-threatening sepsis. Most patients with Gaucher disease are initially evaluated by a haematologist-oncologist. Improved education is needed to enable prompt detection of Gaucher disease. An increased risk of multiple myeloma and haematological and non-haematological malignancies has been reported in type 1 Gaucher disease. This review aims to offer familiarisation with a rare disorder in haematological practice, focusing on adult patient management.

AB - Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gaucher disease type 1 should be considered in cases of unexplained splenomegaly with or without bleeding diathesis, skeletal manifestations or hepatomegaly. Diagnosis is made by demonstrating decreased glucocerebrosidase activity in peripheral blood leucocytes. Dried blood spots can be used for screening but conventional enzyme assay on heparinised blood is essential. Patients with Gaucher disease may have extensive organ involvement despite relatively minor overt symptomatology. Evidence suggests that Gaucher disease may remain undiagnosed for years, leading to severe complications that are preventable or reversible with enzyme replacement therapy. These complications include avascular necrosis, severe bleeding, chronic bone pain, pathological fractures, growth failure, liver pathology and life-threatening sepsis. Most patients with Gaucher disease are initially evaluated by a haematologist-oncologist. Improved education is needed to enable prompt detection of Gaucher disease. An increased risk of multiple myeloma and haematological and non-haematological malignancies has been reported in type 1 Gaucher disease. This review aims to offer familiarisation with a rare disorder in haematological practice, focusing on adult patient management.

KW - Cancer

KW - Diagnosis

KW - Gaucher disease

KW - Glucocerebrosidase

KW - Haematological malignancy

KW - Monoclonal gammopathy of undermined significance (MGUS)

KW - Multiple myeloma

KW - Splenomegaly

KW - Thrombocytopenia

UR - http://www.scopus.com/inward/record.url?scp=84973596553&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84973596553&partnerID=8YFLogxK

U2 - 10.17925/EOH.2015.11.01.15

DO - 10.17925/EOH.2015.11.01.15

M3 - Article

VL - 11

SP - 15

EP - 20

JO - European Oncology and Haematology

JF - European Oncology and Haematology

SN - 2045-5275

IS - 1

ER -