W.7a: Hypolipidemias and lipidosis

Question 1

Primary hypolipidemias are what kind of diseases?

Answer 1

Very rare hereditary diseases

Question 2

4 Hypoalphalipoproteinemias

Answer 2

1. An-alpha-lipoproteinemia (Tangier-disease)
2. Familiar hypoalphalipoproteinemia
3. Fish-eye disease
4. Familiar LCAT-deficiency

Question 3

What is missing in an-alpha-lipoproteinemia and what is characteristic for the disease?

Answer 3

• Apo A1 -> No HDL + ApoC1 and C2 level decreased

- Cholesterol precipitates into lymphatic nodules, orange color, liver, rectal mucosa

Question 4

What is seen in familiar hypoalphalipoproteinemia?

Answer 4

• Se.HDL is decreased

- Has been associated with MI manifested in early age

Question 5

Cause of fish-eye disease

Answer 5

Possibly caused by a posttranscriptional error of LCAT enzyme

Question 6

Seen in familiar LCAT-deficiency

Answer 6

• No HDL
• Cataract
• Albuminuria
• Cholesterol-ester level is very low

Question 7

Secondary hypoalphalipoproteinemias (6)

Answer 7

1. Obesity
2. Physical inactivity
3. Type II DM
4. Smoking
5. Excess carb. intake (>60%)
6. Drugs: beta blockers, anabolic steroids, thiazids, progestagens

Question 8

What is missing in a-beta-lipoproteinemia (Bassen-Kornzweig disease) and what are the symptoms?

Answer 8

• Every ApoB containing lipoprotein are missing

- Neurological symptoms, retinitis pigmentosa, lipid absorption failure -> Vitamin E and A deficiency

Question 9

Primary hypobetalipoproteinemias (2)

Answer 9

• A-beta-lipoproteinemia

- Familial hypobetalipoproteinemia

Question 10

In familial hypobetalipoproteinemia there is a mutation in … which leads to..?

Answer 10

• Mutation of ApoB

- Leading to decreased Se.LDL (20-30% of normal value)

Question 11

Secondary hypobetalipoproteinemias (6)

Answer 11

1. Liver diseases
2. Hyperthyroidism
3. Digestive malnutrition
4. Malignancy (eg. CML)
5. Inflammatory disease (RA, SLE)
6. Fever

Question 12

What is lipidosis?

Answer 12

Lipid storage disease; any disorder of lipid metabolism involving abnormal accumulation of lipids in the reticuloendothelial cells

Question 13

How do one get lipidosis?

Answer 13

It is genetically acquired

Question 14

Examples of lipidosis (4)

Answer 14

1. Tay Sachs disease
2. Gaucher’s disease
3. Niemann-Pick disease
4. Fabry’s disease

Question 15

Neurological complications of lipidosis (lots!)

Answer 15

May include ataxia, eye paralysis, clouding of the cornea, brain degeneration, seizures, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, burning pain in the arms and legs

Question 16

Prognosis of Gaucher disease

Answer 16

Children with this disease may live well into adulthood

Question 17

Prognosis of Niemann-Pick disease

Answer 17

Children most often die young (from infection or progressive neurological loss)

Question 18

Prognosis of Fabry disease

Answer 18

Children usually die by the age of 2, usually from lung disease

Question 19

Prognosis of Tay-Sachs disease

Answer 19

Children often die by the age of 4 from recurring infections.