Gaucher disease

 

 

Overview

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

 

The fatty substances also can build up in bone tissue, weakening the bone and increasing 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 doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.

 

Gaucher disease is an inherited disorder most commonly found in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.

 

Symptoms

There are different types of Gaucher disease, and signs and symptoms of the disease vary widely, even within the same type.

 

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

 

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

 

Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.

Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.

Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.

More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.

 

When to see a doctor

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

 

 

Causes

Autosomal recessive inheritance pattern

 

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

 

Risk factors

People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.

 

Complications

Gaucher disease can result in:

 

Delays in growth and puberty in children

Gynecological and obstetric problems

Parkinson's disease

Cancers such as myeloma, leukemia and lymphoma

 

 

 

Contemporary treatment of Gaucher disease

 

Gene replacement uses a new, working copy of the malfunctioning gene to replace the function of a nonworking or missing gene. This new gene is able to give the body instructions for making a particular protein the body needs.

 

This gene is created in a laboratory and then packaged in a delivery vehicle called a vector. This vector carries the gene into the nucleus of specific cells. Depending on the vector used, the gene may become part of the cell’s DNA, or it may stay separate. Either way, it starts to make the protein that’s missing or in short supply.

 

Gene therapy has been an area of study in humans since 1990. In late 2017, a gene replacement therapy was approved for the first time in the US to treat a rare, inherited form of vision loss.

 

Many gene therapies are currently being investigated in clinical trials.

 

Jan Ricks Jennings, MHA, LFACHE

Senior Consultant

Senior Management Resources, LLC

 

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

 

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