Lipid storage diseases

Question 1

Lipid storage disorders (LSDs) are?

Answer 1

Inherited

Question 2

LSDs definition?

Answer 2

accumulation of unmetabolized material in lysosomes of various cells.

Question 3

Enzyme deficiency of
B-glucocerebrosidase

Prevalent in Ashkenazi Jewish population

Macrophage can’t digest stroma of ingested cells

Answer 3

Gaucher’s Disease

Question 4

Large Histocyte (20-100um)

Found in BM

Displaced nucleus W/ 1 or more nucleoli

Plasm blue/white “crumpled tissue” paper, (probably due to glycolipid deposition.

Answer 4

Gaucher’s cell

Question 5

Niemann-Pick Disease

Answer 5

Enzyme deficiency Sphingomyelinase

Increased in Jewish population

Accumulation of cholesterol and sphingomyelin

Jaundice @ birth

Hepatosplenomegaly

Enlarged Lymph Nodes

Neurological Symptoms

Mental Impairment

Death by 3

Question 6

A lipid-laden giant foamy cell in BM and other organs?

Answer 6

Niemann-Pick cell

Question 7

Hexosaminidase A enzyme deficient

Severity correlates W/ residual enzyme activity

Effects CNS and eye

Seizures and paralysis

Answer 7

Tay Sachs disease

Question 8

Foamy lymphocytes present but aren’t considered diagnostic

Blue cells W/ abnormally enlarged neurons

Answer 8

Tay-sachs disease cells