Table 2

Lipoprotein Patterns
(Fredrickson Phenotypes)
Phenotype Elevated
Lipoprotein(s)

Elevated
Lipids

Chylomicrons

TGs

IIa

LDL

Cholesterol

IIb

LDL and VLDL

TGs and
cholesterol

III

VLDL and
chylomicron

TGs and
cholesterol

remnants
IV

VLDL

TGs

Chylomicrons and

TGs and

VLDL

cholesterol

LDL = low-density lipoprotein; TGs = triglycerides;

VLDL = very-low-density lipoprotein.

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Table 3

Genetic (Primary) Dyslipidemias

Disorder

Genetic
Inherita Prevalen Clinical
Defect/Mechan nce
ce
Features
ism

Treatment

Familial

LDL receptor

Diet

hypercholesterol
emia

defect
Diminished LDL
clearance

Codomi

Present

nant or

worldwid

comple

e but

lowering

x with

increase

drugs

multipl

d among

French

genes

Canadia

Lipid-

LDL
apheresis
(for

n,

homozygot

Christian

es and

Lebanes

heterozygo

e, and

tes with

South

severe

African

disease)

populati

Liver

ons

transplanta
Heterozyg Tendon

tion (for

otes:

xanthomas,

homozygot

1/500

arcus

es)

corneae,
premature
CAD (ages
3050),
responsible
for about 5%
of MIs in
people < 60
yr
TC: 250500
mg/dL (713

mmol/L)
Homozyg

Planar and

otes: 1/1

tendon

million

xanthomas

(increas

and tuberous

ed

xanthomas,

among

premature

French

CAD (before

Canadia

age 18)

n,

TC > 500

Christian

mg/dL (> 13

Lebanes

mmol/L)

e, and
South
African
populati
ons)
Familial defective
apo B-100

Apo B (LDL
receptor

Domina

1/700

nt

Xanthomas,
arcus

Diet
Lipid-

binding region

corneae,

lowering

defect)

premature

drugs

CAD

Diminished LDL
clearance

TC: 250500
mg/dL (713
mmol/L)

PCSK9 gain of

Increased

function

degradation of

mutations

LDL receptors

Polygenic

Unknown,

hypercholesterol

possibly multiple

emia

defects and
mechanisms

Domina

Unknown

nt

Variable

Similar to
familial

Common

Diet
Lipid-

hypercholest

lowering

erolemia

drugs

Premature
CAD
TC: 250350
mg/dL (6.5

Diet
Lipidlowering
drugs

9.0 mmol/L)
LPL deficiency

Endothelial LPL
defect

Recessi
ve

Diminished
chylomicron

Rare but

Failure to

present

thrive (in

fat

worldwid

infants),

restriction

eruptive

with fat-

xanthomas,

soluble

hepatosplen

vitamin

omegaly,

supplemen

pancreatitis

tation and

clearance

TG: > 750

Diet: Total

medium-

mg/dL (>8.5

chain TG

mmol/L)

supplemen
tation

Apo C-II
deficiency

Apo C-II (causing

functional LPL

Recessi
ve

< 1/1
million

deficiency)

Pancreatitis

Diet: Total

(in some

fat

adults),

restriction

metabolic

with fat-

syndrome

soluble

(often

vitamin

present)

supplemen

TG: > 750

tation and

mg/dL (>8.5

medium-

mmol/L)

chain TG
supplemen
tation

Familial

Unknown,

hypertriglyceride

possibly multiple

mia

defects and
mechanisms

Domina
nt

1/100

Usually no

Diet

symptoms or Weight loss

findings;
Lipidoccasionally
lowering
hyperuricemi
drugs
a,
sometimes
early
atherosclero
sis

TG: 200500
mg/dL (2.3
5.7 mmol/L),
possibly
higher
depending
on diet and
alcohol use
Familial

Unknown,

Domina
nt

1/50 to
1/100

Premature

combined

possibly multiple

CAD,

hyperlipidemia

defects and

responsible

mechanisms

for about
15% of MIs
in

Diet
Weight loss
Lipidlowering
drugs

people< 60
yr
Apo B:
Disproportio
nately
elevated
TC: 250500
mg/dL (6.5
13.0 mmol/L)
TG: 250750
mg/dL (2.8
8.5 mmol/L)
Familial

Apo E (usually

Recessi

dysbetalipoprote

e2/e2

ve

inemia

homozygotes)

(more

Diminished

commo

1/5000
Present

Xanthomas
(especially

Diet
Lipid-

worldwid

tuberous and

lowering

palmar),

drugs

chylomicron and

n) or

yellow

VLDL clearance

domina

palmar

nt (less

creases,

commo

premature

n)

CAD

TC: 250500
mg/dL (6.5
13.0 mmol/L)
TG: 250500
mg/dL (2.8
5.6 mmol/L)
Primary

Unknown,

hypoalphalipopr

possibly apo A-I,

oteinemia

C-III, or A-IV

Domina

About 5%

nt

Premature
CAD
HDL: 1535

(familial or

mg/dL

nonfamilial)

Exercise
HDLelevating
drugs and
LDLlowering
drugs

Familial apo
A/apo C-III
deficiency/mutat

Apo A or apo C-III Unknow

Increased HDL

Rare

Corneal

Nonspecific

opacities,
xanthomas,

catabolism

ions

premature
CAD (in
some
people)
HDL: 1530
mg/dL

Familial LCAT

LCAT gene

deficiency

Recessi
ve

Extremely Corneal
rare

opacities,
anemia,
renal failure
HDL: < 10

Fat
restriction
Renal
transplanta
tion

mg/dL
Fisheye disease
(partial LCAT
deficiency)

LCAT gene

Recessi
ve

Extremely Corneal
rare

opacities
HDL: < 10
mg/dL

Nonspecific

Tangier disease

ABCA1 gene

Recessi

Rare

ve

Premature

Low-fat diet

CAD (in
some
people),
peripheral
neuropathy,
hemolytic
anemia,
corneal
opacities,
hepatosplen
omegaly,
orange
tonsils
HDL: < 5
mg/dL

Familial HDL

ABCA1 gene

deficiency
Hepatic lipase

Domina

Rare

nt
Hepatic lipase

deficiency

Recessi
ve

Premature

Low-fat diet

CAD
Extremely Premature
rare

CAD
TC: 2501500
mg/dL

Empiric:
Diet, lipidlowering
drugs

TG: 3958200
mg/dL
HDL: Variable
Cerebrotendinous Hepatic
xanthomatosis

mitochondrial

Recessi

Cataracts,

Chenodeox

premature

ycholic

27-hydroxylase

CAD,

acid

defect

neuropathy,

Blockage of bile
acid synthesis
and conversion
of cholesterol to
cholestanol,

ve

Rare

ataxia

which
accumulates
Sitosterolemia

ABCG5 and ABC

G8genes

Recessi

Rare

ve

Tendon
xanthomas,
premature
CAD

Fat
restriction
Bile acid
sequestran
ts
Ezetimibe

Cholesteryl ester

Lysosomal

storage disease

esterase

and Wolman

deficiency

disease

Recessi
ve

Rare

Premature
CAD
Accumulation

Possibly
statins
Enzyme

of cholesteryl

replaceme

esters and

nt

TG in

(experimen

lysosomes in

tal)

the liver,
spleen, and
lymph nodes
Cirrhosis
ABCA1 = ATP-binding cassette transporter A1; ABCG5 and 8 = ATP-binding cassette subfamily G
members 5 and 8; apo = apoprotein; CAD = coronary artery disease; HDL = high-density lipoprotein;
LCAT = lecithin-cholesterol acyltransferase; LDL = low-density lipoprotein; LPL = lipoprotein lipase;
PCSK9 = proprotein convertase subtilisin-like/kexin type 9; TC = total cholesterol; TG = triglyceride;
VLDL = very-low-density lipoprotein.

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