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What is Gaucher disease?
Excerpt from “Hannah’s Story”
( )
Hannah was a happy, healthy baby. She had the most precious smile with those silly crossed eyes. I
would call her my little cross-eyed baby. I thought the problem would resolve itself, but it never got
better. When I took her to the doctor, he indicated she might need surgery and eventually glasses.
Around the age of 3 & 1/2 months, I noticed a change in Hannah.Something was not right. And, one
day, I began to make loud noises around her as she slept. Hannah’s hearing was gone. But, I still
believed, eventually, everything would be all right.
At about 4 months of age, things seemed to change even more. Hannah just could not tolerate her
hearing aids at all.. And, her cry seemed to change. I still remember the raspy cry. I feel like I can
still hear it sometimes. I believe during her 4th month, she rolled over only one time. She never rolled over
again. She reached a weight of about 12 pounds and never gained another pound.
My little cross-eyed baby, who always smiled, seemed to be getting sicker, weaker and more sad.
I am not sure that I actually heard much of anything that the doctor said to me except for those words that I just
knew he was not going to say; “This disease is fatal.” I felt like someone just ripped my heart from my body!
What Is Wrong With Hannah?
In 1882, a French physician named Philippe Charles Ernest Gaucher (pronounced: go-SHAY) first
described a clinical syndrome in a 32-year-old woman whose liver and spleen were enlarged.
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The
signs and symptoms of this condition vary widely among affected individuals.
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called
non-neuronopathic Gaucher disease because the brain and spinal cord are usually not affected.
The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major
signs and symptoms include enlargement of the liver and spleen, a low number of red blood cells (anemia), easy
bruising caused by a decrease in blood platelets, and bone abnormalities.
Type 2 Gaucher disease is known as a neuronopathic form of the disorder because it is characterized by problems
that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can
cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening
medical problems beginning in infancy and those with Type 2 Gaucher rarely live past the age of three.
1. What are Hannah’s main symptoms?
2. Which type of Gaucher disease does Hannah have?
What is Causing Hannah’s Symptoms?
Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an
enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called
glucocerebroside into glucose and a fat called ceramide.
Without enough of this enzyme, glucocerebroside can build up to toxic levels within cells. They accumulate
mainly in the lysosomes of macrophages, a type of white blood cell that acts as a recycler for cellular debris
and other harmful materials. When these cells become enlarged due to the fatty substance accumulation
inside, they are referred to as Gaucher cells. Gaucher disease is referred to as a “storage disease”
because the accumulation, or “storage” of the lipids leads to the symptoms of the disease.
As the accumulation continues, the lipid-filled Gaucher cells displace normal cells
affecting the function of different tissues and organs, leading to the signs and symptoms
that are common in Gaucher disease. These signs and symptoms often include
enlargement of the spleen and liver, anemia, fatigue, and damage to bone resulting in
fractures and pain. In neuronopathic subtypes, Gaucher cells accumulate in the central
nervous system, causing a range of symptoms, including eye movement disorders,
difficulty in swallowing, seizures, loss of muscle coordination, called ataxia, and hearing
3. Why is Gaucher called a storage disease?
4. How are white blood cells (macrophages) affected by the disease?
5. What is the relationship between lysosomes and Gaucher disease?
6. Rare diseases like Gaucher often do not get funding to study treatments because they affect so few
people. Suggest a way that this disease could be treated (or cured).
“A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments”
Related Video: House Episode; Season 8, Episode 7 “Dead and Buried” (Gaucher is not mentioned in the episode, but
symptoms of the child, hearing loss, and House diagnosing it as a genetic disease point toward Gaucher)