1. 1. Beta lipoproteinaemia
Genetic-mode : A.R
C & TG : are extremely low
Chylomycron , VLDL , LDL , apo-B : NEGATIVE
Parents (Heterozygotes) : have : normal plasma & Apo-B
C/F : * onset in early child-hood .
* diarrhoea / failure to thrive .
* fat mal-absorption
* spino-cerebral degeneration
* pigmented-retinopathy
* acanthocytosis
* cadiomyopathy (rare)

2. :. DD is Friedreich’s ataxia
C/F related to low fat soluble vitamines
Treatment
low fat
high caloric diet
high vit. + vit. E

3. 2. Familial chylomycronaemia syndrome
Autosomal-recessive * 1/
defect is either Lipoprotein-lipase enzyme low or APO-C11 low
:. Chylomycron is very high in cir.
hypertriglyceridaemia chylomycron
VLDL
C/F : 1. lipaemia-retinalis ( fundoscopy)
2. recurrent abd. Pain pancreatitis
lipoprotein electrophoresis either type 1 or 4
3. Eruptive-xanthomas Buttocks
4. Hepato- splenomegaly reuptake of chylomicron
by RE cells of the liver & spleen
5. No premature IHD .

4. A. In LPL def. * lipid low diet ( 15 gm/d)
* fat-sol. Vit. (A,D,K&E)
* fish oil
* plasmapharesis
B. In APO-C11 def. * plasma infusion (F.F.P.)

5. 3. Familial dysbeta lipoproteinaemia
( F.D.B.L ) C
( TYPE 111 ) IDL &
(F.broad B disease ) TG
* APO- E defect & deficiency ( E2/E2 genotype is the
most common of 1% of general population)
* mixed hyperlipoproteinemia ( IDL C &TG )
* PPT. factors are
1. high caloric diet
2. high fat diet
3. obesity
4. D.M
5. hypothyroidism
6. renal disease
7. estrogen def.
8. alcohol use
9. presence of another genetic hyper lipidiemia (FHC)

6. C/F : seldom before menopause
* Adulthood
1. xanthomas
* tuberoeruptive
* palmar
2. premature IHD-periph. Vascular dis.
3. C & TG are high .
lipoproteinelectrophoresis broad B band
VLDL/TG > 0.3
TREATMENT is aggressive due to IHD
1. treat the ppt. factors
2. diet restriction of fat
3. statins ,fibrates , Niacin
4. combination drug therapy

7. 4. Familial hypercholestrolaemia (F.H)
* A.codominant ( Heterozygous 1/500 )
( Homozygous 1/ ) Rx: LDL-apharesis
hepatic transplantations+immune suppressive therapy
Biochemically: LDL but TG is NORMAL
>750 LDL-receptor gene defect
No LDL-C catabolism :. LDL-C accumulation in blood
C/F: * higher incidence in : Afrikaners
Christians Lebanese
French Canadians
* Xanthelasma eye-lid
* coronial-arcus
* premature IHD/ peripheral vascular dis.
* Aortic stinosis in hohozy. Valvular or supravalvular
* Tendon –xanthoma
* Careful familial Hx. & screemy parent & 1st degree relative

8. Treatment : * dietary fat-restrictions
* lipid lowering drugs
. Statins
. Resins
. Nicotinic acid
. Combination therapy
. Ezetimibe ( inhibits intestinal
absorption of cholesterol 10 mg/day)
. LDL- aphaeresis

9. 5. Familial hypertriglyceridaemia (F.HTG)
*Is relatively common 1/500
*unknown etiology
*no premature ASCAD or IHD +Family Hx & screening
type4 hyperlipoproteinaemia “Frederickson classification”
*autosomal dominant (A.D)
* plasma VLDL + modest C
T.G
Dx. Depend on triode of HDL-C
VLDL,TG LDL-C >=250mg%
( mg%)
:. Plasma C/TG is lower in FHTG than FDBL or FCHL

10. TRAETMENT : . We exclude causes before starting Rx
. Life style modifiable , diet TG
restriction & exercise
. Drug-fenofibrate or niacin

11. 6.Familial combined hyperlipidaemia ( FCHL)
* Most common , unknown primary hyperlipidaemia
* 1/200 persons
* 20% of CHD before age 60
* C & TG & HDL-C
* A.D
* Childhood
C/F : * Visceral obesity
* DM – insulin resistance .
* hypertension
* hyperuricaemia
* xanthoma –ve .