Gaucher Disease

Gaucher Disease: Introduction

Gaucher Disease: Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Gaucher Disease.

Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. More detailed information about the symptoms, causes, and treatments of Gaucher Disease is available below.

Symptoms of Gaucher Disease

• Symptoms of Type 1 Gaucher Disease:
  • Symptoms may appear early in childhood or in adulthood
  • Anemia
  • Fatigue
  • Bruising easily
• more symptoms...»

See full list of 33 symptoms of Gaucher Disease

Home Diagnostic Testing

Home medical testing related to Gaucher Disease:

• Liver Health & Hepatitis: Home Testing
  • Home Hepatitis Tests
  • Home Liver Tests
  • Sexually Transmitted Disease Tests
• Brain & Neurological Disorders: Related Home Testing:
  • ADHD -- Home Tests
  • Drug Screening Kits
• more tests...»

Gaucher Disease: Complications

Review possible medical complications related to Gaucher Disease:

• Bone fractures
• Infarctions
• Necrosis
• Pain
• Thrombocytopenia
• more complications...»

Medical Textbooks Online about Gaucher Disease

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Wrongly Diagnosed with Gaucher Disease?

• Misdiagnosis of Gaucher Disease
• Failure to diagnose Gaucher Disease
• Hidden causes of Gaucher Disease (possibly wrongly diagnosed)
• Undiagnosed: Gaucher Disease

Gaucher Disease: Self Assessment Tools

• Stroke -- Self Assessment Tools
• more tools...»

Gaucher Disease: Marketplace Products, Discounts & Offers

Products, offers and promotion categories available for Gaucher Disease:

• Stroke
• Brain
• more product offers...»

Gaucher Disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

• Brain & Neurological Disorders: Undiagnosed:
  • Adult ADHD -- Undiagnosed - ADHD can be undiagnosed in adults.
  • ADHD -- Undiagnosed
  • Alzheimer Disease -- Undiagnosed
  • Migraine -- Undiagnosed
  • Concentration Disorders -- Undiagnosed
  • Stroke -- Undiagnosed
  • Bipolar Disorder -- Undiagnosed
  • Schizophrenia -- Undiagnosed
  • Epilepsy -- Undiagnosed
• more undiagnosed conditions...»

Misdiagnosis and Gaucher Disease

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or ...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed....read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in post...read more »

Chronic liver disease often undiagnosed: One study reported that 50% of patients with a chronic liver disease remain undiagnosed by their primary physician. The reasons are...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See ...read more »

Read more about Misdiagnosis and Gaucher Disease

Gaucher Disease: Research Doctors & Specialists

Research related physicians and medical specialists:

• Neurology (Brain/CNS Specialists):
  • Neurology (Brain/CNS Specialists)
  • Pediatric Neurology (Child Brain Specialist)
  • Pediatric Neurosurgery (Child Neurosurgeon)
  • Clinical Neurophysiology
  • Neurodevelopment Disabilities
  • Neurosurgery (Brain Surgery)
  • Neuromusculoskeletal Medicine (Nerve/Muscle/Bone Specialists)
  • Neuroradiology
  • Vascular Neurology
  • Neuropathology
  • Otology / Neurotology (Ear/Hearing Specialists)
• Stroke & Vascular Specialists:
  • Vascular Neurology (Brain Blood Vessels)
  • Vascular & Interventional Radiology
  • Vascular Surgery (Blood Vessel Surgeon)
  • Neuropathology (Brain Diagnostics)
• Liver Health Specialists (Hepatology):
  • Transplant Hepatology (Liver Transplant Specialist)
• Senior Health Specialists (Geriatrics):
• more specialists...»

Other doctor, physician and specialist research services:

• Rate Your Doctor Online
• Research Your Doctor Online
• Review Patient Surveys About Your Doctor
• Research local specialists including ratings, affiliations, and sanctions.

Gaucher Disease: Rare Types

Rare types of diseases and disorders in related medical categories:

• Brain & Neurological Disorders: Rare Types:
  • Adult ADHD -- Rare Types
  • ADHD -- Rare Types
  • Alzheimer Disease -- Rare Types
  • Migraine -- Rare Types
  • Concentration Disorders -- Rare Types
  • Stroke -- Rare Types
  • Bipolar Disorder -- Rare Types
  • Schizophrenia -- Rare Types
  • Epilepsy -- Rare Types
• more rare diseases...»

Causes of Gaucher Disease

• All 3 forms of Gaucher disease are caused by glucocerebrosidase activity deficiency due to mutations in GBA, structural gene that encodes the enzyme. Widespread accumulation of glucosylceramide-laden macrophages results from the enzyme deficiency
• more causes...»

Read more about causes of Gaucher Disease

More information about causes of Gaucher Disease:

• Underlying causes of Gaucher Disease
• Gaucher Disease as a symptom

Treatments for Gaucher Disease

• Enzyme replacement therapy
• Enzyme replacement therapy (ERT) for Gaucher disease is now available, with most patients receiving recombinant enzyme (imiglucerase [Cerezyme]). This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease
• more treatments...»

Read more about treatments for Gaucher Disease

Evidence Based Medicine Research for Gaucher Disease

Medical research articles related to Gaucher Disease include:

• Hematopoietic stem cell transplantation for Gaucher disease
• Histopathology Spleen - Gaucher disease
• Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
• Pulmonary Hypertension, Idiopathic (Follow-up)
• Lymphadenopathy (Overview)
• Lipid Storage Disorders (Treatment)
• Avascular Necrosis, Femoral Head
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Videos for Gaucher Disease

Patient Surveys for Gaucher Disease

• Patient Profile Survey
  Take Survey  View Results
• Survey about the symptoms of your Gaucher Disease
  Take Survey  View Results

Prognosis for Gaucher Disease

Prognosis for Gaucher Disease: Many individuals with Gaucher disease have few manifestations and a normal life expectancy without any intervention.

More about prognosis of Gaucher Disease

Reseach about Gaucher Disease

Visit our research pages for current research about Gaucher Disease treatments.

Clinical Trials for Gaucher Disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Gaucher Disease include:

• A Study of the Efficacy and Safety of Genz-112638 in Type 1 Gaucher Patients - This study is currently recruiting patients (Current: 23 Nov 2006) - Genz-112638
• Safety and Efficacy of Cerezyme Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease - This study is no longer recruiting patients (Current: 23 Nov 2006) - Cerezyme
• A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. - This study has been completed (Current: 23 Nov 2006) - Cerezyme (imiglucerase for injection)
• International Collaborative Gaucher Registry (ICGG) - This study is currently recruiting patients (Current: 23 Nov 2006)
• Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease - This study is currently recruiting patients (Current: 23 Nov 2006)
• more trials...»

See full list of 24 Clinical Trials for Gaucher Disease

Statistics for Gaucher Disease

• Medical statistics for Gaucher Disease
• Prevalence and incidence statistics for Gaucher Disease
• Death and Mortality statistics for Gaucher Disease
• Society statistics for Gaucher Disease

Gaucher Disease: Broader Related Topics

• Liver conditions
• Chronic liver disease
• Brain conditions
• Genetic Disease
• Bone Marrow Conditions
• Spleen conditions
• more types...»

Types of Gaucher Disease

Types of Gaucher Disease

• Type 1 adult Gaucher disease - most common; adult Gaucher disease, or chronic non-neuronopathic
• Type 2 infantile Gaucher disease - infantile, or acute neuronopathic
• Type 3 juvenile Gaucher disease - juvenile, or subacute neuronopathic
• more types...»

Read more about Types of Gaucher Disease

Stories from Users Related to Gaucher Disease

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  • Fluid running down back of my head feeling
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User Interactive Forums

Read about other experiences, ask a question about Gaucher Disease, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Article Excerpts about Gaucher Disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Gaucher's Disease Information Page: NINDS (Excerpt)

Gaucher’s disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)

Definitions of Gaucher Disease:

An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97) - (Source - Diseases Database)

Gaucher Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Gaucher Disease, or a subtype of Gaucher Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Gaucher Disease as a "rare disease".
Source - Orphanet