Description

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, especially the spleen and the liver. This causes these organs to enlarge and can affect their function.

The fatty substances also accumulate in the bone tissue, which weakens the bones and increases the risk of fractures. If the bone marrow is affected, it can interfere with your blood's ability to clot.

An enzyme that breaks down these fatty substances does not work properly in people with Gaucher disease. The treatment often includes enzyme replacement therapy.

A hereditary disorder of the Gaucher disease is most common in Jews of Central and eastern european descent (Ashkenazi). The symptoms may appear at any age.

Symptoms

There are different types of Gaucher disease, and the signs and symptoms of the disease vary widely, even within the same type. Type 1 is the most common.

Brothers, even identical twins, with the disease may have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.

Most of the people who have Gaucher disease have varying degrees of the following problems:

  • Abdominal discomfort. Because the liver and especially the spleen can increase dramatically, the abdomen can become too relaxed.
  • Skeletal abnormalities. Gaucher disease can weaken the bone, increasing the risk of painful fractures. It can also interfere with the blood supply to the bones, which can cause parts of the bone to die.
  • Disorders of the blood. A decrease in red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause bruising and nosebleeds.

More rarely, the disease Gaucher's disease affects the brain, which can cause abnormal eye movements, muscle stiffness, swallowing difficulties and seizures. A rare subtype of Gaucher disease begins in childhood and usually results in the death of 2 years of age.

When to see a doctor

If you or your child has signs and symptoms associated with Gaucher disease, make an appointment with your doctor.

Causes

Gaucher disease is passed along a pattern of inheritance called autosomal recessive inheritance. Both parents must be carriers of Gaucher changed (mutated) gene for their child to inherit the disease.

Risk factors

The people of Central and eastern european Jews (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.

Complications

Gaucher disease can result in:

  • Delayed growth and puberty in children
  • Gynaecological and obstetric problems
  • Parkinson's disease
  • Types of cancer such as myeloma, leukemia and lymphoma

Diagnosis

During a physical exam, your doctor will press on your or your child's abdomen to check the size of the spleen and the liver. To determine if your child has Gaucher disease, the doctor will compare your child's height and weight to standardized growth charts.

He or she may also recommend certain lab tests, imaging scans, and genetic counseling.

Laboratory tests

The blood samples you can check the levels of the enzyme associated with Gaucher disease. Genetic analysis can reveal whether you have the disease.

Imaging Tests

People diagnosed with Gaucher disease usually require periodic tests to keep track of your progression, including:

  • Dual-energy X-ray absorptiometry (DXA). This test uses low level X-rays to measure bone density.
  • The magnetic resonance imaging. The use of radio waves and a strong magnetic field, an mri can show if the spleen or liver is enlarged and if the bone marrow has been affected.

Preconception screening and prenatal testing

You might want to consider genetic screening prior to starting a family if you or your partner is of Ashkenazi Jewish heritage or, if you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease.

Treatment

Although there is no cure for Gaucher disease, a variety of treatments that can help control the symptoms, prevent irreversible damage and improve the quality of life. Some people have mild symptoms do not need treatment.

Your doctor will probably recommend the routine monitoring to see the progression of the disease and complications. How often you need to be monitored will depend on your situation.

Drugs

Many people who have Gaucher disease have been seen improvements in their symptoms after starting treatment with:

  • The enzyme replacement therapy. This approach replaces the deficiency of the enzyme with artificial. These replacement enzymes is given in an outpatient procedure through a vein (intravenously), usually in high doses with intervals of two weeks. Sometimes people who have an allergy or hypersensitivity reaction to treatment of the enzyme.
  • Miglustat (Zavesca). This oral drug appears to interfere with the production of fatty substances to build up in people with Gaucher disease. Diarrhea and weight loss are common side effects.
  • Eliglustat (Cerdelga). This drug also seems to inhibit the production of fatty substances to build up in people with the most common form of Gaucher disease. Possible side effects include fatigue, headache, nausea, and diarrhea.
  • Medications for Osteoporosis. These types of medicines can help to rebuild bone weakened by disease Gauchers.

Surgical and other procedures

If your symptoms are severe and you are not a candidate for less invasive treatments, your doctor may suggest:

  • Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by the Gaucher disease are removed and replaced, which can reverse many of Gaucher's disease signs and symptoms. Because this is a risky approach, is performed less frequently than is the enzyme replacement therapy.
  • The removal of the spleen. Before enzyme replacement therapy became available, the removal of the spleen was a common treatment for Gaucher disease. Now, this procedure is usually used as a last resort.

Coping and support

Have any chronic illness can be difficult, but having a rare disease such as Gaucher's disease can be even more difficult. Few people know about the disease, and even less to understand the challenges they face. You may find it helpful to talk with someone who has Gaucher's disease or someone who has a child with the disease. Talk with your doctor about support groups in your area.

Preparing for your appointment

It is likely to begin to see your primary care provider. Then you may be referred to a doctor who specializes in blood disorders (hematologist) or a doctor who specializes in disorders hereditary (genetic).

What you can do

Before the appointment, you can write a list of answers to the following questions:

  • Has someone in your family has been diagnosed with Gaucher disease?
  • You have children in your extended family died before the age of 2 years?
  • What medications and supplements that you take regularly?

What to expect from your doctor

Your doctor may ask you questions, including:

  • What are the symptoms, and when they began?
  • There is pain in the abdomen or in the bones?
  • Have you ever noticed easy bruising or bleeding from the nose?
  • What is your family's ancestral heritage?
  • There are some diseases or symptoms that have been produced in several generations in your family?
Symptoms and treatment of Gaucher's disease