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Is There A Disease?
In 1882, the French medical student Phillipe Charles Ernest Gaucher described
a 32-year old woman whose spleen was very enlarged. A postmortem exam
revealed that cells in the spleen were
themselves enlarged. Gaucher described these clinical and pathological
findings in his doctoral thesis. The enlarged cells
(now called "Gaucher cells") and spleen became signs of the
disease, and Gaucher's description of the them enabled other physicians
to diagnose people with Gaucher disease, and introduce the term into medical
literature. Did people with Gaucher disease exist before 1882? Yes, they
did. But because a set of symptoms wasn't identified with the condition,
"Gaucher disease" as a disease diagnosis did not exist.
As more was learned about Gaucher disease, the list of identifiable symptoms
or signs grew. In addition to an enlarged spleen and liver,
people with Gaucher disease may have lung, kidney, and digestive problems;
bone problems, including growth retardation in children, joint pain, spontaneous
fractures, and acute bone crises; nosebleeds, bruising,anemia,
and other blood-related problems; and general fatigue. Sometimes, in more
severe cases, the central nervous system
is also affected.
Beyond the emotionally-draining effects that chronic
diseasescan have, Gaucher disease also has other psychological consequences.
Children must deal with looking different from their friends and having
physical limitations of their activities. Adults may question whether
to get married or to have children, and they face uncertainty about how
severe their disease may become. Many people with Gaucher disease must
change their life plans and dreams.
Back To Top | Photography
Credits
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Phillipe Gaucher |
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Gaucher's Thesis Title Page |
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Physical Effects Chart |
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