DISEASE MANAGEMENT

GAUCHER’S DISEASE

PRESENTED BY :-
MANGAL A. KALAWADIA
ROLL NO. : 17
INTRODUCTION

This genetic disorder causes a lipid composed of

a ceramide and glucose to accumulate in the
tissues, enlarging both the liver and the spleen.
TYPES :-
Type 1 : Adult chronic non neuronopathic form;
enlarged spleen & bone lesions.
Type 2 : Acute infantile neuronopathic form;
enlarged spleen, severe neurologic
abnormalities & death.
 Type 3 : which may occur anytime in
childhood and combines the features of the
adult chronic form with slowly progressive
but usually milder neurologic dysfunction.
DIET

 Increased caloric requirements as patients

have higher than normal metabolism.

 Mineral or vitamin supplements may be

recommended for nutritional deficiencies
that affect Gaucher patients, such as anemia
or vitamin B12 deficiency.
LIFESTYLE

 Due to physical symptoms & complications

patient may have difficult time coping
emotionally.

 Challenges include reduced self esteem,

mood changes, extreme fatigue and an
inability to work or enjoy leisure activities.
MEDICATION

Two specific medication :-

 Enzyme Replacement Therapy (imiglucerase):
Administered by I.V infusion sometimes by a
central venous access. Treatment is well
tolerated.
 Substrate Reduction Therapy (miglustat) :
Administered orally, second line treatment in
type 1 disease if enzyme replacement therapy
is not possible.
CONCLUSION

Researchers are currently pursuing gene therapy

as an area that may lead to a cure for Gaucher
disease. It is believed that gene therapy will
involve introducing normal glucocerebrosidase
genes into cells of an affected individual. Ideally,
these cells would then produce sufficient
amounts of glucocerebrosidase. While research
of gene therapy for Gaucher disease is ongoing,
much work and time is needed before it may
become available to the Gaucher community.
THANK YOU