Pfizer Gaucher Disease Brochure - National Gaucher Foundation

Gaucher
disease
Understanding
this rare disease

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Contents
05 Introduction
06 What is Gaucher disease
07 What are the signs and symptoms
08 What are the types of Gaucher disease
10 Who gets Gaucher disease
POCKET
11 How is Gaucher disease inherited
12 How is Gaucher disease diagnosed
13 How is Gaucher disease treated
15 Commitment to rare disease

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Introduction
Gaucher disease is a rare, inherited disease.
It affects only about 1 in 50,000 to
1 in 100,000 people worldwide.
Although Gaucher disease
is a rare condition, you are
not alone. There are
treatment options and
support services available
to help you manage the
symptoms and minimize
the impact the disease
has on your life or the life
of your loved ones.
In addition, ongoing research
continues to work toward discovering
new treatment options.
This brochure is provided to help answer
questions about Gaucher disease.
It contains basic information about
Gaucher disease, including what causes
it, who gets it, how it is treated, and more.
This information is designed to help you
have a more informed discussion with
your doctor. Only he or she can help
decide what is best for you.

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What is Gaucher disease
Gaucher (pronounced go-SHAY) disease is a
rare, inherited disease. It is the most common
condition within a family of diseases known
as lysosomal storage diseases. Lysosomes
are parts of our cells that produce enzymes.
These enzymes are needed by our bodies to
break down nutrients and waste in order for
our cells and organs to work properly.
Over time, Gaucher cells can collect in the
liver, spleen, and bone marrow, causing the
signs and symptoms of Gaucher disease. In
rare cases, Gaucher cells can also collect in the
central nervous system, including the brain,
resulting in more severe forms of the disease.
In a person with Gaucher
disease, cells do not produce
enough of an enzyme
called glucocerebrosidase
(pronounced GLOO-ko-SERe-bro-sy-daze).
This enzyme is needed to break down a
fatty substance called glucocerebroside
(pronounced GLOO-ko-SER-e-bro-side).
Without enough of this essential enzyme,
the fatty substance builds up in some cells,
enlarging them. These enlarged cells are
called Gaucher cells.
How rare is Gaucher disease
Gaucher disease is
estimated to affect about
1 in 50,000 to 1 in 100,000
people worldwide.
Gaucher Cells
When there is not enough enzyme to break down glucocerebroside,
the cells enlarge and take on a “wrinkled paper” appearance.
Gaucher disease occurs more frequently
in people of Ashkenazi (Eastern and Central
European) Jewish descent than in those with
other backgrounds. In the Ashkenazi Jewish
population, it is seen in approximately
1 in 400 to 1 in 600 people.
What are the signs and symptoms
The signs and symptoms of Gaucher disease vary from one person to another. Some people
have very mild symptoms and live for years before being diagnosed with the disease. Others
have very severe symptoms.
Common signs
and symptoms include:
• Low hemoglobin count (anemia)
• Low platelet count
• Enlarged liver
• Enlarged spleen
• Bone pain
• Bone disease
• Fatigue
• Easy bruising
Less common signs
and symptoms include:
• Heart and lung problems
• Cognitive impairment
• Seizures
• Dementia
People with Gaucher disease can experience 1 or any combination of symptoms. Symptoms
also vary depending on the type of Gaucher disease a person has.

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What are the types
of Gaucher disease
There are 3 types of Gaucher disease. The type of Gaucher disease a person
has depends on whether the central nervous system (spine, brain, and
nerves) is involved. It also depends on the severity of that involvement.
Description
Symptoms
Type 1
• Affects organs and tissue,
and is the only type that
generally doesn’t involve
the central nervous system,
which includes the brain
• Symptoms can begin to
develop in early childhood
or adulthood. They include:
− Enlarged spleen
− Enlarged liver
− Low hemoglobin count
(anemia)
− Low platelet count
Type 2
• Can involve the organs and
tissue, but also the central
nervous system, which
includes the brain
• Is a rare, very severe form
of the disease that affects
infants
• Symptoms begin in infancy
and generally lead to death
by 2 years of age. They
include:
− Enlarged spleen
− Enlarged liver
− Central nervous system
involvement
− Low hemoglobin count
− Low platelet count
Type 3
• Can involve the organs and
tissue like Types 1 and 2, but
is generally more severe
• Involves the central nervous
system, which includes
the brain
• Does not progress as quickly
as Type 2 and the effects of
the disease on the central
nervous system vary
• Symptoms can begin
to develop in childhood
to early adulthood.
They include:
− Enlarged spleen
− Enlarged liver
− Central nervous system
involvement
− Low hemoglobin count
− Low platelet count

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How is Gaucher disease inherited
An inheritance pattern is a way of seeing
how a gene is passed down from generation
to generation. This graphic shows how
different combinations of people—those
with and without the disease, as well as
carriers—can pass Gaucher disease on to
their children.
The inheritance patterns show why some
people have Gaucher disease, while others,
who may even be closely related to the
person with the disease, might not.
Legend
Nonaffected
Carrier
Gaucher disease
Who gets Gaucher disease
Gaucher disease is inherited, meaning
it is passed down from one generation to
the next through the genes of one’s parents.
Genes determine various traits, like eye
color, or the likelihood that one might get
a certain disease.
A pair of genes determines
each of our traits—
1 inherited from each
parent. Each gene in the
pair is considered either
dominant or recessive.
If a dominant gene is present, the dominant
characteristic will develop. A recessive
characteristic can only develop when 2
recessive genes are present. This is referred
to as an autosomal recessive inheritance.
As with all of our traits, we inherit a pair of
genes that is responsible for our ability to
produce the enzyme glucocerebrosidase—
1 gene from each parent. A person gets
Gaucher disease when the mother and
father each carry a recessive copy of this
gene and the child receives this recessive
copy from both parents. If a person inherits
only 1 recessive copy of this gene, they are
considered a carrier. They do not have the
disease but can pass it on to their children.

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How is Gaucher disease diagnosed
How is Gaucher disease treated
Diagnosing Gaucher disease can sometimes be
a challenge. Some people may have symptoms
for many years without knowing they have
the disease. When symptoms develop, they
can often be confused with other diseases.
For these reasons, it can sometimes take time
before a diagnosis is made.
Enzyme testing
A test called an enzyme assay measures
glucocerebrosidase activity in the blood or
urine. People with Gaucher disease will have
very low levels of enzyme activity.
Additional testing
Some other tests are related to diagnosing
or monitoring Gaucher disease:
• Magnetic resonance imaging (MRI)
may help show extent of disease
• Computed tomography (CT) scan
may show disease in the bone and soft tissue
• Quantitative chemical shift imaging (QCSI)
evaluates the extent of bone marrow
involvement and disease severity
• Dual-energy X-ray absorptiometry (DEXA)
measures bone density
• Bone marrow biopsy may be performed
to help rule out other serious diseases
Genetic testing
Testing can be done to identify carriers of
Gaucher disease. Genetic testing may also
help identify specific gene mutations to
determine which type of Gaucher disease
a person has.
Why early diagnosis is important
Gaucher disease is a progressive disease.
Left untreated, it can become debilitating
and even lead to death. Some serious
symptoms may become irreversible if
treatment is delayed. That is why an early
diagnosis is important.
Gaucher disease may be suspected based
on many different things, including:
• Family history
• Enlarged spleen
• Enlarged liver
• Bone abnormalities
• Low hemoglobin (anemia)
• Low platelet counts
Although there is currently no cure for
Gaucher disease, treatment can help people
manage some of the symptoms of the disease.
Currently, Gaucher disease is commonly
treated with one of 2 types of treatment:
enzyme replacement therapy (ERT) or
substrate reduction therapy (SRT). These
treatments work best on the symptoms of
Type 1 Gaucher disease. They do not affect
the brain involvement in Types 2 and 3.
Enzyme replacement
therapy (ERT)
ERT is currently used to treat most people
with Type 1 Gaucher disease. It involves
giving people the enzyme that their bodies
are missing by infusion, so the cells and
organs can work properly. ERT works by
breaking down glucocerebroside. This is
the fatty substance that causes Gaucher
cells to enlarge, and leads to the signs and
symptoms of the disease.
Substrate reduction therapy (SRT)
The goal of SRT is to minimize the production
and accumulation of glucocerebroside within
cells. SRT works by reducing the amount of
glucocerebroside the cells make, so less fatty
waste accumulates in the cells. SRT is taken
orally. It serves as an option for people who
cannot use ERT.
Managing Gaucher disease
Gaucher disease is a lifelong condition.
As always, a doctor is the best source
to discuss treatment options for
Gaucher disease.

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Commitment
to rare disease
As one of the world’s largest research-based pharmaceutical companies,
Pfizer is committed to helping address
the unmet medical needs of people with
rare diseases.
Pfizer partners with advocacy groups, academic organizations, and
biopharmaceutical companies to discover, develop, and deliver new
treatments and support programs for rare diseases.
Where can I find additional support
There are several organizations and associations that
can provide you with additional information. They also
offer a safe place to reach out for support and share
with others who are living with Gaucher disease.
The resources listed below are not associated with
Pfizer Inc. The URL addresses are provided as a
convenience to you. Pfizer accepts no responsibility
for the content or services of the linked sites.
National Gaucher Foundation:
www.gaucherdisease.org
Genetic Alliance:
www.geneticalliance.org
National Organization for Rare Disorders (NORD):
www.rarediseases.org

Committed to the
Gaucher Community
NPE00511/TAL456402-04 © 2012 Pfi zer Inc. All rights reserved. Printed in USA/May 2012