Gaucher Disease

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

How is Gaucher disease inherited?

Gaucher disease in inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the defective gene in order for a child to be affected.

How common is Gaucher disease?

In people of Ashkenazi Jewish descent Type 1 Gaucher disease (see below) is more common, and affects 1 out of every 855 people. About 1 out of every 15 people of Ashkenazi Jewish descent are thought to be carriers of the genetic mutation responsible for Gaucher disease. The other types of Gaucher disease do not occur more frequently in people of Ashkenazi Jewish heritage. In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people.

What are the types of Gaucher disease?

Type 1 Gaucher disease

The most common form of the condition is type 1 Gaucher disease. About 90% of people with the condition have this type. The signs and symptoms of this type can vary in their extent of severity. The symptoms can appear in childhood or may be delayed until adulthood. The brain and spinal cord, or central nervous system (CNS), are typically not affected by the disease, so this type is sometimes referred to as non-neuronopathic, meaning that the condition does not affect nerve cells.

Type 2 Gaucher disease (acute neuronopathic form)

This rare type of Gaucher disease affects the nervous system and is termed neuronopathic Gaucher disease. Signs and symptoms include seizures, eye movement problems, and brain damage. Type 2 Gaucher disease is very severe and typically leads to life-threatening medical problems that begin in infancy.

Type 3 Gaucher disease (chronic neoronopathic form)

Like Type 2 Gaucher disease, type 3 Gaucher is a neuronopathic for of Gaucher disease that affects the nervous system, but symptoms do not progress as rapidly as in Type 2. The signs and symptoms may appear in infancy or later in childhood.

Perinatal lethal Gaucher disease

Perinatal lethal Gaucher disease is the most severe form of the condition. With this type, the life-threatening conditions can appear before birth. There may be excessive swelling and fluid accumulation in the fetus (hydrops fetalis) prior to birth. Other features can include severe neurological disturbances, abnormal facial features, hepatosplenomegaly, and dry or scaly skin. Most infants with this form of the condition survive only a few days after birth.

Cardiovascular Gaucher disease

This type of Gaucher disease, considered a rare subgroup of type 3 disease, primarily affects the heart, leading to calcification or hardening of the heart valves. Sometimes, symptoms and signs of other types of Gaucher disease may also be present.

Medically Reviewed by a Doctor on 7/5/2016

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