Also known as:
- Cerebroside lipidosis syndrome
- Gaucher splenomegaly
- Glucocerebrosidase deficiency
- Glucosylceramide beta-glucosidase deficiency
- Glucosylceramide lipidosis
- Glucosyl cerebroside lipidosis
- Kerasin histiocytosis
- Kerasin lipoidosis
- Kerasin thesaurismosis
- Lipoid histiocytosis (kerasin type)
Gaucher disease is an inherited condition that affects many different systems of the body. It is considered a lysosomal storage disorder because people affected by Gaucher disease have lysosomes (the recycling center of each cell) that cannot break down certain types of fats. This causes undigested fat molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.
There are five forms of Gaucher disease, which are classified based on their organ system involvement and level of severity. The symptoms and long term outcome of each form vary widely. In some forms of Gaucher disease, detecting the condition early and beginning proper treatment may help prevent some of the severe health outcomes associated with the condition.
Your baby’s doctor may ask you if your baby is showing any of the signs of Gaucher disease (see Early Signs below). If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.
If your baby’s newborn screening result for Gaucher disease was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated Gaucher disease can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve checking your baby’s blood for signs of Gaucher disease. When a child has a lysosomal storage disorder, certain substances may be present in reduced amounts. Low levels of the enzyme, beta-glucocerebrosidase, might indicate that your baby has Gaucher disease. Your baby’s doctor may want to confirm the diagnosis through clinical genetic testing.
About Gaucher disease
The age of onset and signs of Gaucher disease differ depending on the form.
Gaucher disease type 1 is the most common form of the condition. It is known as the “non-neuronopathic form” because it does not affect the brain or spinal cord. Signs of Gaucher disease type 1 may occur any time between childhood and adulthood. These signs include:
- Swollen stomach
- Easy bruising
- Bone pain
- Easily Broken Bones
- Yellow spots in the eyes
Gaucher disease type 2 and type 3 are classified as “neuronopathic forms” of the condition because they are associated with problems of the brain and spinal cord. In addition to those listed for Gaucher disease type 1, signs of Gaucher disease type 2 and type 3 also include:
- Abnormal eye movements
- Seizures (Epilepsy)
- Developmental delay
- Breathing problems
- Difficulty swallowing
- Uncontrollable tightening and releasing of muscles
Gaucher disease type 2 and type 3 share similar signs but differ in the age of onset and disease progression. Signs of Gaucher disease type 2 are usually apparent by 3 months of age and progress very rapidly. In fact, many babies with Gaucher disease type 2 do not live long enough to develop some of the symptoms found in Gaucher disease type 1 or type 3. Signs of Gaucher disease type 3 usually begin a little later (before age 2) and progress more slowly than type 2.
The most severe form of Gaucher disease is the perinatal lethal form which causes life-threatening complications before birth or in the first few days of life. Signs of this forminclude:
- Swelling caused by fluid build-up before birth (hydrops fetalis)
- Dry, scaly skin (ichthyosis) or other skin abnormalities
- Swollen stomach
- Distinctive facial features
- Severe neurological problems
Gaucher disease, cardiovascular type, is a form of the condition that primarily affects the heart. Signs usually begin in childhood and include:
- Eye abnormalities
- Bone pain
- Easily Broken Bones
If your baby shows any of these signs, be sure to contact your baby’s health care provider immediately.
Supplements and Medications
Your baby’s health care provider may recommend that your baby begin enzyme replacement therapy (ERT) to improve the signs and symptoms of Gaucher disease and to stabilize your baby’s organ function. This treatment aims to supplement the enzymes that are present at low levels in your baby’s lysosomes. It is suggested that individuals with some forms of Gaucher disease begin ERT as soon as possible, even if symptoms have not yet appeared, to reduce future risks for complications due to liver and spleen enlargement and to improve overall bone health.
Your baby’s health care provider may prescribe an oral medication called miglustat for individuals with mild to moderate Gaucher disease that cannot be treated with ERT. Miglustat may reduce the enlargement of the liver and spleen and increase bone density.
Your child may require analgesics to help with bone pain. Oral bisphosphonates and calcium/vitamin D supplements are often recommended to improve bone density.
If your baby still has tiredness or excessive bleeding after ERT, he or she may need regular blood transfusions. In this treatment, blood cells from a healthy individual are given to a person with Gaucher disease.
Joint Replacement Surgery
Individuals with Gaucher disease often require joint replacement surgery to relieve pain and restore movement.
Bone Marrow Transplant
Individuals with severe Gaucher disease type 1 or type 3 and who are not responding to ERT can often benefit from a bone marrow transplant. In a bone marrow transplant, bone marrow cells from a healthy person are given to a person with Gaucher disease. This treatment can improve enzyme levels and reduce the abnormal size of the liver.
The expected outcome of Gaucher disease largely depends on the severity of the condition and the symptoms present. There is currently no cure for Gaucher disease. However, treatments are available to delay symptoms and improve the overall quality of life for individuals with this condition. Early identification and treatment often allows children with Gaucher disease types 1, 3 and cardiovascular form to live healthier lives with fewer complications. This is why newborn screening for Gaucher disease is so important.
Even with treatment, all forms of Gaucher disease are usually associated with a shortened lifespan. Gaucher disease type 1 is associated with the most variable life expectancy. Some individuals pass away in early childhood from severe health problems, while others with less severe cases may have a normal lifespan.
Individuals with Gaucher disease type 3 usually develop symptoms in childhood, but this form of the disease tends to progress slowly. While some reported cases have died in childhood, most live into their 30s and 40s. Gaucher disease type 2 causes life-threatening medical problems in infancy and progresses quickly. Babies with this form of the condition will usually die between ages two and four.
Gaucher disease, perinatal lethal form, the most severe type, causes life-threatening complications in-utero or in early infancy. Most infants with this form of the condition die before or shortly after birth.
Structures called lysosomes are the recycling centers within out cells. Lysosomes contain enzymes that help the cell breakdown and reuse certain materials. Some enzymes help the lysosome breakdown fats, specifically. One of these enzymes is called beta-glucocerebrosidase (GC).
If your baby has Gaucher disease, his or her body is missing or making non-working copies of GC enzymes. When these enzymes are not working correctly, your baby’s body cannot break down certain fats. This causes fat molecules and other harmful substances to build up in cells throughout the body, resulting in the many signs and symptoms of Gaucher disease.
Gaucher disease is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for Gaucher disease, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition.
While having a child with Gaucher disease is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
Support for Gaucher disease
Support groups can help connect families who have a child or other family member affected with Gaucher disease with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
Children’s Gaucher Research Fund
National Gaucher Foundation
Work with your baby’s health care provider to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with physicians that specialize in metabolism and other medical resources in your community. These health care providers can be found at Comprehensive Gaucher Centers. Some children with Gaucher disease have developmental delays. If you think that your baby is not meeting his or her developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care.
Because Gaucher disease is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for Gaucher disease, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.
Danielle is an enthusiastic, lovely girl who walks the fine line between Gaucher disease type 1 and type 3. Read about the challenges Danielle has faced, and the hope and love her family has for their daughter.
Emily was diagnosed with Gaucher disease type 3. Read about her family’s challenging experience in receiving the diagnosis and the hope they have for their daughter’s future.
You can read more family stories on the Children’s Gaucher Research Fund website.