3. TABLE OF CONTENTS
• INTRODUCTION
• TYPES AND SYMPTOMS
• CAUSES
• AFFECTED POPULATIONS
• DIAGNOSIS
• TREATMENT
4. GAUCHER DISEASE
Gaucher disease is lysosomal storage disease in which abnormal amount
of glycolipids accumulate in body due to lack of enzyme,
glucocerebrosidase.
5. TYPES
There are four types of Gaucher Disease with each one have different
symptoms:
• Gaucher disease type 1
• Gaucher disease type 2
• Gaucher disease type 3
• Neonatal Gaucher disease
6. GAUCHER DISEASE TYPE 1
• It is also known as non-neuronopathic.
• It is most common form of condition.
• Person experience brusising, chronic fatigue .
• Abnormally enlarged liver and/or spleen (hepatosplenomegaly)
• Osteoporosis.
7. GAUCHER DISEASE TYPE 2
• Also known as acute neuronopathic Gaucher disease, occurs in newborns and
infants
• Characterized by abnormal accumulation of glucocerebroside in the brain.
• Splenomegaly at age of 6, experience difficulty in swallowing and feeding.
• Affected infants may lose previously acquired motor skills and exhibit low muscle
tone (hypotonia), involuntary muscle spasms (spasticity).
• Anemia and thrombocytopenia may also occur.
• Children with Gaucher disease type 2 have greatly reduced lifespans, with death
usually occurring between 1 and 3 years of life
8. GAUCHER DISEASE TYPE 3
• Also known as chronic neuronopathic Gaucher disease, occurs during the
first decade of life.
• In addition to the blood and bone abnormalities, an inability to coordinate
voluntary movements (ataxia); and brief, shock-like muscle spasms of the
arms, legs or entire body (myoclonic seizures).
• May have difficulty moving their eyes from side-to-side (horizontal gaze
palsy).
• Patients also develop pulmonary (lung) disease (interstitial lung disease).
9. Perinatal-lethal form
• Fetal/neonatal Gaucher disease occurs in less than 5% of patients.
• Fetus/newborn may present with widespread swelling of the skin,leading to
fluid build up in heart,lungs and skin.
• Bleeding within the skull (intracranial hemorrhage).
• Contraction of the joints in fixed, bent position.
• Scaling of the skin (non-bullous ichthyosiform erythrodema) with a reddish
appearance.
10. CAUSES
• Gaucher disease is caused by changes (mutations) in the GBA gene which is
located on chromosome 3.
• All three forms of Gaucher disease are inherited in an autosomal recessive
pattern.
11.
12. Diagnosis
• The diagnosis of Gaucher disease, may be confirmed thorough enzyme
assay test is known as BGL (beta-glucosidase leukocyte) blood test.
• Genetic testing is done via blood or saliva. Identification of two causal gene
defects, in conjunction with enzyme test results, confirms the diagnosis of
Gaucher disease.
• Prenatal diagnosis of Gaucher disease is possible if a known GBA gene
mutation is present in the family. Testing can be done through amniocentesis
or chorionic villus sampling (CVS).
13. TREATMENT
• There are current FDA-approved drug therapy options that include enzyme
replacement therapy (ERT) and substrate reduction therapy (SRT).
• ERT is given every 2 weeks via intravenous (IV) infusions either at infusion
centers, National Gaucher Disease Treatment Center, or at home by self-
administration, assistance from a family member/friend or home care nurse.
• ERT drugs include imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and
taliglucerase (Elelyso).
14. • Substrate reduction therapy work differently than the ERT’s by blocking the
production of glucocerebroside (fatty substance) by inhibiting the enzyme
glucosylceramide synthase.
• It is not preferred for children, teenager and pregnant,beastfeeding women.
• Two current FDA-approved drugs include eliglustat (Cerdelga) and imiglustat
(Zavesca).
