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)

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

2. Familial chylomycronaemia syndrome Autosomal-recessive * 1/1000000 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 .

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.)

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)

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

4. Familial hypercholestrolaemia (F.H) * A.codominant ( Heterozygous 1/500 ) ( Homozygous 1/1000000 ) 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

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

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% (250-1000mg%) :. Plasma C/TG is lower in FHTG than FDBL or FCHL

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

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 .