THE BURDEN OF GAUCHER DISEASE: A REVIEW OF THE LITERATURE
(Abstract release date: 05/21/15)
EHA Library. Nalysnyk L. 06/12/15; 102745; PB1969
Disclosure(s): Genzyme, a Sanofi company
Luba Nalysnyk
Contributions
Contributions
Abstract
Abstract: PB1969
Type: Publication Only
Background
Gaucher disease (GD) is a rare, genetic lysosomal storage disorder caused by a deficiency in the enzyme β-glucocerebrosidase. This enzymatic deficiency leads to progressive accumulation of the substrate glucosylceramide in organ tissues resulting in debilitating hematologic, visceral, and skeletal manifestations that span a wide spectrum of disease severity and adversely impact patients’ quality of life. Glucosylceramide accumulation in macrophage lysosomes of the liver, spleen, and bone marrow leads to anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as defining clinical signs. Three subtypes of GD are recognized: type 1 (GD1, non-neuropathic), type 2 (GD2, acute neuropathic), and type 3 (GD3, sub-acute/chronic neuropathic), with GD1 being most prevalent. Diagnosis of GD relies on clinical presentation, heightened diagnostic suspicion and exclusion of other hematologic diseases. Enzyme assay to measure deficiency of β-glucocerebrosidase in leukocytes is the definitive diagnostic test. However, owing to low disease awareness and symptoms that overlap with other diseases, diagnostic delay is common, which substantially impairs patient care.
Aims
To better understand the burden of GD, a comprehensive review of the published literature was conducted.
Methods
MEDLINE, EMBASE, CENTRAL, and conference proceedings literature sources published in English between January 1990 and February 2013 were searched for relevant publications. Eligible studies were primarily of observational design and examined the disease epidemiology, clinical and socioeconomic disease burden of GD and the impact of current treatment options.
Results
Overall, 2034 citations were identified through a systematic search of databases, conference abstracts, and manual searches of published reviews. Full text was reviewed in-depth for 177 relevant studies and a total of 97 publications were summarized. In the reviewed studies, the standardized incidence and prevalence of GD in the general population varies from 0.30 to 5.80 per 100,000 and 0.33 to 1.75 per 100,000, respectively, and GD1 is the predominant type in most regions. The risk of mortality is highest in GD patients who present younger than age 5 years and generally increases after age 55; the life expectancy is lower than the general population. Prior to treatment, anemia was present in 11–75% and thrombocytopenia in 20–62% of GD patients in the reviewed studies. Prevalence of splenomegaly and hepatomegaly varied widely among small samples of patients with untreated GD (15–96% and 10–86%), respectively. Bone pain and bone crises were reported frequently in studies of patients with untreated GD (8.0–64.2% and 3.4–24.2%), respectively. Parkinson’s disease and cancer were frequently reported medically important comorbidities among patients with GD.
Summary
GD is a rare, chronic disease associated with significant disease burden to patients and their families. Signs and symptoms of Gaucher disease can be nonspecific and are often suggestive of hematologic abnormalities, including neoplasms. Disease awareness is of critical importance in facilitating clinical diagnosis and optimal management. Current treatment options for GD include enzyme replacement therapy or substrate reduction therapy. However, there are still medical unmet needs and further research is needed in this area.
Keyword(s): Anemia, Bone disease, Gaucher disease, Thrombocytopenia
Session topic: Publication Only
Type: Publication Only
Background
Gaucher disease (GD) is a rare, genetic lysosomal storage disorder caused by a deficiency in the enzyme β-glucocerebrosidase. This enzymatic deficiency leads to progressive accumulation of the substrate glucosylceramide in organ tissues resulting in debilitating hematologic, visceral, and skeletal manifestations that span a wide spectrum of disease severity and adversely impact patients’ quality of life. Glucosylceramide accumulation in macrophage lysosomes of the liver, spleen, and bone marrow leads to anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as defining clinical signs. Three subtypes of GD are recognized: type 1 (GD1, non-neuropathic), type 2 (GD2, acute neuropathic), and type 3 (GD3, sub-acute/chronic neuropathic), with GD1 being most prevalent. Diagnosis of GD relies on clinical presentation, heightened diagnostic suspicion and exclusion of other hematologic diseases. Enzyme assay to measure deficiency of β-glucocerebrosidase in leukocytes is the definitive diagnostic test. However, owing to low disease awareness and symptoms that overlap with other diseases, diagnostic delay is common, which substantially impairs patient care.
Aims
To better understand the burden of GD, a comprehensive review of the published literature was conducted.
Methods
MEDLINE, EMBASE, CENTRAL, and conference proceedings literature sources published in English between January 1990 and February 2013 were searched for relevant publications. Eligible studies were primarily of observational design and examined the disease epidemiology, clinical and socioeconomic disease burden of GD and the impact of current treatment options.
Results
Overall, 2034 citations were identified through a systematic search of databases, conference abstracts, and manual searches of published reviews. Full text was reviewed in-depth for 177 relevant studies and a total of 97 publications were summarized. In the reviewed studies, the standardized incidence and prevalence of GD in the general population varies from 0.30 to 5.80 per 100,000 and 0.33 to 1.75 per 100,000, respectively, and GD1 is the predominant type in most regions. The risk of mortality is highest in GD patients who present younger than age 5 years and generally increases after age 55; the life expectancy is lower than the general population. Prior to treatment, anemia was present in 11–75% and thrombocytopenia in 20–62% of GD patients in the reviewed studies. Prevalence of splenomegaly and hepatomegaly varied widely among small samples of patients with untreated GD (15–96% and 10–86%), respectively. Bone pain and bone crises were reported frequently in studies of patients with untreated GD (8.0–64.2% and 3.4–24.2%), respectively. Parkinson’s disease and cancer were frequently reported medically important comorbidities among patients with GD.
Summary
GD is a rare, chronic disease associated with significant disease burden to patients and their families. Signs and symptoms of Gaucher disease can be nonspecific and are often suggestive of hematologic abnormalities, including neoplasms. Disease awareness is of critical importance in facilitating clinical diagnosis and optimal management. Current treatment options for GD include enzyme replacement therapy or substrate reduction therapy. However, there are still medical unmet needs and further research is needed in this area.
Keyword(s): Anemia, Bone disease, Gaucher disease, Thrombocytopenia
Session topic: Publication Only
Abstract: PB1969
Type: Publication Only
Background
Gaucher disease (GD) is a rare, genetic lysosomal storage disorder caused by a deficiency in the enzyme β-glucocerebrosidase. This enzymatic deficiency leads to progressive accumulation of the substrate glucosylceramide in organ tissues resulting in debilitating hematologic, visceral, and skeletal manifestations that span a wide spectrum of disease severity and adversely impact patients’ quality of life. Glucosylceramide accumulation in macrophage lysosomes of the liver, spleen, and bone marrow leads to anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as defining clinical signs. Three subtypes of GD are recognized: type 1 (GD1, non-neuropathic), type 2 (GD2, acute neuropathic), and type 3 (GD3, sub-acute/chronic neuropathic), with GD1 being most prevalent. Diagnosis of GD relies on clinical presentation, heightened diagnostic suspicion and exclusion of other hematologic diseases. Enzyme assay to measure deficiency of β-glucocerebrosidase in leukocytes is the definitive diagnostic test. However, owing to low disease awareness and symptoms that overlap with other diseases, diagnostic delay is common, which substantially impairs patient care.
Aims
To better understand the burden of GD, a comprehensive review of the published literature was conducted.
Methods
MEDLINE, EMBASE, CENTRAL, and conference proceedings literature sources published in English between January 1990 and February 2013 were searched for relevant publications. Eligible studies were primarily of observational design and examined the disease epidemiology, clinical and socioeconomic disease burden of GD and the impact of current treatment options.
Results
Overall, 2034 citations were identified through a systematic search of databases, conference abstracts, and manual searches of published reviews. Full text was reviewed in-depth for 177 relevant studies and a total of 97 publications were summarized. In the reviewed studies, the standardized incidence and prevalence of GD in the general population varies from 0.30 to 5.80 per 100,000 and 0.33 to 1.75 per 100,000, respectively, and GD1 is the predominant type in most regions. The risk of mortality is highest in GD patients who present younger than age 5 years and generally increases after age 55; the life expectancy is lower than the general population. Prior to treatment, anemia was present in 11–75% and thrombocytopenia in 20–62% of GD patients in the reviewed studies. Prevalence of splenomegaly and hepatomegaly varied widely among small samples of patients with untreated GD (15–96% and 10–86%), respectively. Bone pain and bone crises were reported frequently in studies of patients with untreated GD (8.0–64.2% and 3.4–24.2%), respectively. Parkinson’s disease and cancer were frequently reported medically important comorbidities among patients with GD.
Summary
GD is a rare, chronic disease associated with significant disease burden to patients and their families. Signs and symptoms of Gaucher disease can be nonspecific and are often suggestive of hematologic abnormalities, including neoplasms. Disease awareness is of critical importance in facilitating clinical diagnosis and optimal management. Current treatment options for GD include enzyme replacement therapy or substrate reduction therapy. However, there are still medical unmet needs and further research is needed in this area.
Keyword(s): Anemia, Bone disease, Gaucher disease, Thrombocytopenia
Session topic: Publication Only
Type: Publication Only
Background
Gaucher disease (GD) is a rare, genetic lysosomal storage disorder caused by a deficiency in the enzyme β-glucocerebrosidase. This enzymatic deficiency leads to progressive accumulation of the substrate glucosylceramide in organ tissues resulting in debilitating hematologic, visceral, and skeletal manifestations that span a wide spectrum of disease severity and adversely impact patients’ quality of life. Glucosylceramide accumulation in macrophage lysosomes of the liver, spleen, and bone marrow leads to anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as defining clinical signs. Three subtypes of GD are recognized: type 1 (GD1, non-neuropathic), type 2 (GD2, acute neuropathic), and type 3 (GD3, sub-acute/chronic neuropathic), with GD1 being most prevalent. Diagnosis of GD relies on clinical presentation, heightened diagnostic suspicion and exclusion of other hematologic diseases. Enzyme assay to measure deficiency of β-glucocerebrosidase in leukocytes is the definitive diagnostic test. However, owing to low disease awareness and symptoms that overlap with other diseases, diagnostic delay is common, which substantially impairs patient care.
Aims
To better understand the burden of GD, a comprehensive review of the published literature was conducted.
Methods
MEDLINE, EMBASE, CENTRAL, and conference proceedings literature sources published in English between January 1990 and February 2013 were searched for relevant publications. Eligible studies were primarily of observational design and examined the disease epidemiology, clinical and socioeconomic disease burden of GD and the impact of current treatment options.
Results
Overall, 2034 citations were identified through a systematic search of databases, conference abstracts, and manual searches of published reviews. Full text was reviewed in-depth for 177 relevant studies and a total of 97 publications were summarized. In the reviewed studies, the standardized incidence and prevalence of GD in the general population varies from 0.30 to 5.80 per 100,000 and 0.33 to 1.75 per 100,000, respectively, and GD1 is the predominant type in most regions. The risk of mortality is highest in GD patients who present younger than age 5 years and generally increases after age 55; the life expectancy is lower than the general population. Prior to treatment, anemia was present in 11–75% and thrombocytopenia in 20–62% of GD patients in the reviewed studies. Prevalence of splenomegaly and hepatomegaly varied widely among small samples of patients with untreated GD (15–96% and 10–86%), respectively. Bone pain and bone crises were reported frequently in studies of patients with untreated GD (8.0–64.2% and 3.4–24.2%), respectively. Parkinson’s disease and cancer were frequently reported medically important comorbidities among patients with GD.
Summary
GD is a rare, chronic disease associated with significant disease burden to patients and their families. Signs and symptoms of Gaucher disease can be nonspecific and are often suggestive of hematologic abnormalities, including neoplasms. Disease awareness is of critical importance in facilitating clinical diagnosis and optimal management. Current treatment options for GD include enzyme replacement therapy or substrate reduction therapy. However, there are still medical unmet needs and further research is needed in this area.
Keyword(s): Anemia, Bone disease, Gaucher disease, Thrombocytopenia
Session topic: Publication Only
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