Gaucher Disease – Symptoms, Types, Treatment, Diagnosis


What is Gaucher Disease?

Gaucher disease is a disease involving the accumulation of lipids in the cells and organs. It is a gentic condition characterized by mutations in the genes. It is the most common lysosomal storage disease.

The exact mechanism of Gaucher disease is the deficiency of glucosylceramidase enzyme, an enzyme that acts on the fatty acid glucosylceramide. The absence of the enzyme leads to the accumulation of glucosylceramide in the cells, specifically in the macrophages and white blood cells. Since the cells are a part of circulation, glucosylceramide can also collect in the liver, spleen, brain, lungs, kidneys and bone marrow.

Gaucher disease is specifically caused by a mutation in the gene located in chromosome 1. The inheritance is autosomal recessive in nature which means that both parents should be carriers in order to pass the gene to 25% of their offspring. The condition may affect females and males equally.

Gaucher Disease Symptoms

  • Anemia

When the fatty deposits accumulate in the bone marrow, the marrow may not be able to perform adequately, leading to low production of RBCs. The spleen will also cause rapid destruction of the cells including RBCs, WBCS and platelets.

  • Low platelet count

The production of platelets is also affected because of bone marrow affectation.

  • Fatigue

The presence of anemia leads to poor oxygen-carrying capacity of the blood. As a result, the cells are poorly oxygenized, leading to weakness and fatigue.

  • Bruising

Platelets are responsible for aggregation of the blood to form clots. When the platelets are low, it leads to easy bleeding and bruising.

  • Enlargement of the spleen

The glucosylceramide that accumulates in the spleen leads to spleenomegaly.

  • Enlargement of the liver

The liver may also be enlarged because of the accumulation of fatty deposits in the organ.

  • Bone lesions

The bone marrow may also develop lesions as a result of glucosylceramide that has accumulated in the area.

  • Neurologic symptoms

The brain may also experience fatty deposits, leading to poor impulse transmission in the neurons. Patients may suffer slowed thought process with problems in memory, orientation, and seizures.

  • Lymph node swelling

The fatty deposits may also travel to the regional lymph nodes and cause swelling.

  • Abdominal distention

Liver enlargement along with spleen enlargement contributes to the distention of the abdomen.

  • Brownish skin

There will also be problems with skin pigmentation because of possible accumulation of fatty deposits under the dermis.

  • Yellow deposits on the sclera

The glucosylceramide deposits may also occur in the eyes, leading to its appearance in the sclera.

  • Increased risk for infection

The affectation of white blood cells leads to poor body functioning in fighting infection. Patients are relatively prone to developing infections.

Gauchers disease picture

Source – Adam inc


There are three types of Gaucher disease, including:

Type I or Non-neuropathic Type

This type is the most common type of Gaucher disease, which occurs in one out of 50,000 live births. It is often experienced by those with Ashkenazi Jewish heritage. The condition often affects the liver and the spleen but does not lead to brain affectation. This type is often a mild form and patients may live well during adulthood.

Type II or Acute Infantile Neuropathic Type

This type affects infants, starting at six months and affects up to one in every 100,000 live births. This involves brain affectation and patients have a shortened lifespan. The child usually may die at the age of two.

Type III or Chronic Neuropathic Type

This type can affect children and adults, affecting one in every 100,000 live births. It also affects the brain, but is generally milder and slower progressing compared to type II. Patients often live until adolescence or early adulthood.


The diagnostic tests for Gaucher disease involve:

  • Genetic Testing

Genetic testing is the most definitive diagnostic tool for the disease because it shows gene mutations in the beta-glucosidase gene. Genetic testing may be done after birth or may also be employed during prenatal stage if there is a strong genetic risk factor in parents.

  • Blood tests

Blood tests may also imply the occurrence of the disease. High levels of angiotensin-converting enzyme, alkaline phosphatase and immunoglobulin may indicate the presence of Gaucher disease.

  • Cell analysis

Cell analysis showing glycolipid-laden macrophages and crinkled paper cytoplasm may also indicate the diagnosis.

Gaucher Disease Treatment

There is no cure for the disease, but it may be possible to managed the condition and prolong the life of patients. Treatment for Gaucher disease involves replacement of enzymes and other supportive managements such as:

Enzyme Replacement Therapy

Replacement therapy using intravenous recombinant glucocerebrosidase or imiglucerase may be given to patients with Type I and Type III Gaucher disease. This therapy may significantly reduce spleen and liver size. However, the therapy is expensive, reaching up to $200,000 annually. Patients need the replacement therapy for life and it costs a great deal of money. Because of that, the FDA has approved an alternative therapy in the form of Velaglucerase alpha in 2010.


Surgery may also be employed to provide symptomatic treatment of patients. Surgical treatment may involve:

Bone marrow transplantation

Bone marrow transplant may be used to replace the defective bone marrow with monocytes with beta-glucosidase. However, bone marrow transplants may involve risks and is rarely performed.


Removal of the spleen may also be done in patients with anemia caused by premature rupture of the spleen.

Joint Replacement Therapy

Patients with joint affectation may require joint replacement surgery to maximize mobility.

Blood Transfusion

Blood transfusion may also be involved in patients with anemia or low platelet counts.


Medications such as antibiotics are given to patients who develope infections. Anticonvulsants are also given to patients with neuropathic symptoms such as seizures. For patients with bone lesions, biphosphonates may be administered.


The prognosis of Gaucher disease depends on the type of the condition. Generally, enzyme replacement therapy only benefits patients with type I or type II Gaucher disease. Patients with type II Gaucher disease often have poorer prognosis than the other types because infants may only have up to two years to live because of acute and severe brain affectation. Type I has the best prognosis because patients can assume a normal life during adulthood.

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