Rare Disease

Gaucher Disease

Section I

What is Gaucher Disease?

Gaucher disease is included in the rare disease community since it's only diagnosed in 1 of 40,000 people. This diagnosis is an inherited metabolic condition that causes fat to build around certain bones and organs. This condition appears when the human body lacks an enzyme called glucocerebrosidase, which leads to an accumulation of glucocerebroside fat. The fat is located within abnormal cells (also called Gaucher cells) - which build up in different parts of the body such as the lungs, spleen, bone tissue, the liver and, the bone marrow. (Gaucher Canada)

Section II

Who is at risk for Gaucher Disease?

Both males and females of all ages are at risk for Gaucher disease. Gaucher is a hereditary genetic disease. Due to this, each parent must pass down an abnormal glucocerebrosidase gene (GBA gene) that provides instructions for making beta-glucocerebroside, the enzyme responsible for breaking down the glucocerebroside fat. The parents might only have one abnormal GBA gene, making them carriers, which may be why they might not be showing any symptoms. Gaucher disease is especially common in people of Eastern and Central European Jewish descent. (Mayo ClinicNational Gaucher FoundationNORD)

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Section III

Types of Gaucher Disease

There are four different types of Gaucher disease, and they are diagnosed based on enzyme level and genetic testing for mutations in the GBA genes.  

Type 1 (non-neuronopathic): This is the most common type of Gaucher disease. It appears throughout a wide range of ages, from childhood to adulthood. This type does not typically affect the central nervous system but can cause bone and organ problems. (WebMDNIHNORD) 

Type 2 (acute neuronopathic): This type of Gaucher disease appears in newborns and infants.  It affects the central nervous system. This type is significantly more severe than type 1, as it causes problems that are usually fatal within two years. (WebMDNIHNORD) 

Type 3 (chronic neuronopathic) This type of Gaucher disease usually appears throughout childhood. It affects the central nervous system, bones, and organs Compared to type 2, this type of Gaucher disease has a later onset, and individuals can survive into adulthood. (WebMDNIHNORD) 

Perinatal-lethal form (fetal/neonatal): Infants are affected by this type of Gaucher disease. It is rare and affects less than 5% of patients. It is the most severe type of Gaucher disease. This type causes problems that are usually fatal within days. (NORDWebMD) 

Section IV

Signs and Characteristics

Those living with Gaucher disease may experience almost no signs, meaning that they are asymptomatic, while others experience chronic to severe signs. This condition can cause many problems, and for many people, signmay appear at a young age. Signs and characteristics vary depending on Gaucher disease type and may vary within each type. (NORDWebMD) 

Type 1 (Signs may range from none to severe)

  • Bruising
  • Enlarged spleen 
  • Enlarged liver 
  • Anemia (Insufficient red blood cells)  
  • Arthritis 
  • Bone pain 
  • Osteoporosis (weakening of bones) 
  • Lung problems 

Type 2 (Signs are much more severe than type 1):

  • Enlarged spleen 
  • Enlarged liver
  • Difficulty swallowing
  • Difficulty gaining weight 
  • Muscle spasms
  • Abnormal eye movements
  • Lung and breathing problems 
  • Pneumonia (lung infection) 
  • Skin abnormalities 
  • Anemia  
Stomach pain-1

Type 3 (Signs progress slower than type 2):

  • Enlarged spleen 
  • Enlarged liver
  • Blood disorders
  • Breathing problems
  • Muscle spasms
  • Cognitive problems 
  • Difficulty moving eyes
Joint pain

Perinatal-lethal form (Signs are most severe):

  • Enlarged spleen 
  • Enlarged liver 
  • Skin swelling causing fluid to build up in the heart, skin, or lungs 
  • Scaly skin 
  • Severe brain problems 
  • Brain bleeding 

(WebMDNIHNORDNational Gaucher Foundation) 

Section V


Genetic Counseling 

Genetic counselors are health professionals that specialize in genetics. Couples and families who have the disease or are carriers may turn to genetic counseling to help them undergo testing and understand the disease and genetic risks before having a child. Couples and families can also review options with genetic counselors and coordinate with Gaucher disease treatment experts. (National Gaucher Foundation)

Enzyme Test  

The most common way to test for Gaucher disease is to do an enzyme test, because like mentioned above, this type of disease results in a lower count of enzymes in the body. The enzyme test is done through a standard blood test. This test is called beta-glucosidase leukocyte (BGL). Adults are tested through a blood sample taken by a needle, while babies are tested through a heel prick. (National Gaucher FoundationCedars Sinai) 

Genetic Testing 

Medical practitioners can determine the probability of a child having Gaucher disease by conducting blood and saliva tests on the parents.  

If both parents are carriers of the abnormal GBA gene, there is a... 

  • 25% chance that the child will have Gaucher disease 
  • 25% chance that the child will not have Gaucher disease 
  • A 50% chance that the child will be a carrier for the disease  

(NIHNational Gaucher Foundation) 

Prenatal Screening 

Medical practitioners may detect Gaucher disease before a child's birth through prenatal screening. However, Prenatal screening cannot determine what type of Gaucher disease a fetus has. Prenatal screening is done through chorionic villus sampling (tissue sample from the mother's placenta) or amniocentesis (extracting womb fluid). Both amniocentesis and chorionic villus sampling may lead to pregnancy complications like a miscarriage. 

(National Gaucher FoundationNORD)

Section VI


Currently, there are two types of approved drug therapies: Enzyme replacement therapy (ERT) & substrate reduction therapy (SRT).  

Enzyme Replacement Therapy (ERT)

This type of therapy has proven successful in increasing anemia and platelet count, reducing the liver and the spleen's enlargement. Skeletal findings have improved. This ERT is a modified version of the glucocerebrosidase enzyme that acts to break down glucocerebroside fat. ERT is most successful with type 1 Gaucher disease as there are no neuroglial characteristics with this type of Gaucher disease. ERT improves symptoms in type 2 and 3 but is not as efficient and successful since it does not improve or affect the neurological characteristics in these two types. ERT works by replacing deficient enzymes with artificial ones; this procedure takes place every two weeks through IV infusions. (NORDMayo Clinic)

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Substrate Reduction Therapy (SRT) 

This type of therapy was approved to treat and be used by adults with type 1 Gaucher disease. The drug has not been approved for children, teenagersolder populations, and individuals with kidney and/or liver problems. SRT reduces the production of glucocerebrosidedecreasing the amount of fat that is accumulated in the body. Currently, there are two companies that have come out with this type of medicine that are also FDA approvedCerdelga and Zavesca. The medicine comes in tablet form and is to be taken daily. (National Gaucher FoundationRare Disease) 

Other treatments 

Depending on the signs and severity of the disease, medical practitioners may conduct spleen removal, bone marrow transplant, blood transfusions, pain medication, and joint replacement surgery. (Cedars SinaiMayo ClinicNIH) 

Section VII

Living with Gaucher Disease

Living with Gaucher disease can greatly affect the lives of individuals. Individuals living with Gaucher may experience periods of pain, that are caused by the enlargement of organs and affected bones. When bones or the skeleton is affected, movement can become painful as joints will be inflamed; this can make it hard to fall asleep. Gaucher disease also causes individuals to feel fatigued. This problem arises due to the lack of red blood cells (anemia). This type of fatigue can be constant as it cannot be fixed by simply getting a good night's sleep. It is important for individuals who experience these symptoms to reach out to their health practitioner to evaluate possible treatment or therapy. (Gauchers Association

Daily Management 

Living with Gaucher disease is different for everyone. 

Here are some points for patients and caregivers to keep in mind: 

  • Physicians typically apply ERT every two weeks through IV infusions.  
  • Patients may find it harder to move around because of pain or fatigue. 
  • Physical therapists can help patients stay mobile 
  • Patients may need assistive devices like canes or walkers to help their mobility  
  • Exercise is important. Exercise routines will need to be adjusted to accommodate mobility changes.
  • Specialists can create nutritional plans and recommend supplements and vitamins for patients after screening for nutritional deficiencies.
  • Patients should continue to practice interests and social activities as long as physicians approve these activities. 
  • Many organizations and support groups are ready to help individuals living with Gaucher disease.   

(WebMDNational Gaucher FoundationMayo Clinic) 

Rare Disease Challenges 

Gaucher disease is a rare disease. Rare diseases only affect a small part of the world population: 3.5% to 5.9% of the total world population. There is not enough scientific knowledge on research and treatments related to rare diseases. However, researchers and physicians constantlsearch for new information to treat rare diseases, like Gaucher disease. (Orphanet CanadaRare Disease Day) 

To learn more about rare diseases, click here. 

Section VIII

Mental Health

The World Health Organization has concluded that individuals who experience chronic illnesses, such as Gaucher disease, are more prone to negative mental health experiences. In fact, around 17% of individuals who make up the general population deal with mental health conditions, compared to 69% of the population diagnosed with a rare disease. (National Gaucher Foundation)

Negative mental health experiences can be associated with a negative self-image due to physical changes; children who experience physical changes, such as having a bigger abdomen due to liver or spleen enlargement, are prone to building a negative self-image caused by possible teasing from peers, for looking 'different'. Teasing can result in a negative mental health experience. (Gauchers Association) 

We encourage individuals who are experiencing negative mental health issues to reach out for help. Help can be found through family, friends, loved ones and health care practitioners.

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Section IX


We've compiled a list of resources to help you get started on your new journey 

Learn about the National Gaucher Foundation: 

Learn about the National Gaucher Foundation of Canada: 

Learn about the International Gaucher Alliance:

Learn more about the National Organization for Rare Disorders (NORD):


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Laura Pinzon

Topic Specialist

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