To report an adverse event or product quality complaint, call 1-877-TAKEDA-7 (1-877-825-3327)
To report an adverse event or product quality complaint, call 1-877-TAKEDA-7 (1-877-825-3327)
Not an actual patient.
LSDs are a group of more than 70 inherited metabolic diseases marked by lysosomal accumulation of waste products.5 Gaucher Disease (GD), named after French physician Phillipe Gaucher who first described it in 1882, is characterized by the accumulation of glycolipid glucocerebroside (glucosylceramide) in macrophages.6 These lipid-filled Gaucher cells displace normal cells in bone marrow, spleen, liver, lungs and in neuronopathic types in the nervous system as well, resulting in its variable clinical presentation.2,3,4,7
GD is a rare disease with a frequency of about 1 in 50,000 to 1 in 100,000 worldwide, but it’s particularly more common in the Ashkenazi Jewish population (1 in 800 to 1 in 1,000).6,8 Due to its inheritance pattern, it tends to affect males and females equally.3 The onset of symptoms can vary depending on disease type and severity with milder forms presenting in adulthood and a significant number of individuals with type 1 never receiving any medical attention.9,10
GD is generally categorized into 3 types: type 1 is the most prevalent, accounting for more than 90% of all cases, and is characterized by the presence of bone disease and the lack of neurologic features. Type 2 and Type 3 both typically involve neurodegeneration.7,10,11,12,13
GD is an autosomal recessive inherited disorder that causes a deficiency in the β-glucocerebrosidase enzyme, which is required for glycosphingolipid metabolism.1,2,3 GD has been associated with >350 different variants in the Glucosylceramidase Beta 1 (GBA1) gene and results in lysosomal accumulation of glucosylceramide within cells, leading to its multisystemic manifestations.6
The manifestations of Type 1 GD are caused by the accumulation of engorged macrophages in visceral tissues.11 By contrast, Types 2 and 3 GD have a pathophysiology that leads to neuronal death, possibly due to the inability to break down glucosylceramide, and the accumulation of a derivative neurotoxin, glucosylsphingosine.6
Identifying patients for diagnostic testing remains a challenge in clinical practice, contributing to diagnostic delays and misdiagnoses.14,15
Although patients are commonly diagnosed in childhood or adolescence, the average age at diagnosis for the most common type of GD (type 1) is 30-40 years of age.9
Initial diagnosis is based on laboratory testing and physical examination including:16
However, a definitive diagnosis requires enzymatic analysis of glucocerebrosidase and can also be supplemented by detection of genetic defects.17
Type 2 GD, with substantial CNS involvement, is typically diagnosed in infancy, with bulbar signs and oculomotor paresis, while Type 3 GD is typically diagnosed in childhood or adolescence, often with a progression of CNS involvement.11
Several factors are consistently elevated in GD and can therefore be used as potential biomarkers to:8
Traditional biomarkers (chitotriosidase and CCL18) have demonstrated low sensitivity and lack specificity.21 Glucosylsphingosine (Lyso-Gb1) has been associated with 100% sensitivity/specificity, is correlated with liver volume and bone marrow fat fraction, and with severity of variants in the GBA gene.4,18,21
This is not intended to be a comprehensive resource of all congresses and congress materials across therapeutic and disease areas. Congress materials may include information about investigational use(s) of compounds/products that are not approved for use by the U.S. Food and Drug Administration (FDA) and/or are inconsistent with the Prescribing Information. Takeda does not recommend the use of any Takeda product beyond the approved labeling. Any decisions regarding the usage of a Takeda product beyond the approved labeling are left to the discretion of the healthcare professional. Takeda makes no representations about whether investigational compounds or unapproved uses will be approved by the FDA.
The NSGC Annual Conference is the largest conference devoted to the educational and professional needs of genetic counselors.
The premier global congress from the world's largest professional society serving both clinicians and scientists working in malignant and classical hematology.
Annual research conference designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in the latest research on lysosomal diseases.
Annual meeting to present both research and clinical topics that promote the science and the practice of clinical genetics and genomics.
ASHG provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics and genomics.
The APHL Newborn Screening Symposium will address state, national and international newborn screening, genetic testing and policy issues important to public health newborn screening systems. Topics include molecular technologies, current and upcoming conditions, quality improvement, communicating with families and the public, short- and long-term follow-up and more.
Annual research conference designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in the latest research on lysosomal diseases.
This resource provides information on Takeda medications available in the Gaucher Disease category and is not intended to represent a complete list of therapeutic options.
(velaglucerase alfa)
Listen to podcasts focused on Gaucher Disease.
Dr. Priya Kishnani and Karen Grinzaid, MS, CGC, provide insights on Gaucher disease diagnosis, management, and monitoring goals derived from recently published consensus guidelines.
Watch videos focused on Gaucher Disease.
Learn about diagnosing two rare diseases: Gaucher Disease and MPS II (Hunter syndrome).
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