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Lipoprotein Patterns
(Fredrickson Phenotypes)
Phenotype Elevated
Lipoprotein(s)
Elevated
Lipids
Chylomicrons
TGs
IIa
LDL
Cholesterol
IIb
TGs and
cholesterol
III
VLDL and
chylomicron
TGs and
cholesterol
remnants
IV
VLDL
TGs
Chylomicrons and
TGs and
VLDL
cholesterol
Copyright 2010-2014 Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Whitehouse Station, N.J., U.S.A.
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Table 3
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
Diet: Total
medium-
mg/dL (>8.5
chain TG
mmol/L)
supplemen
tation
Apo C-II
deficiency
Recessi
ve
< 1/1
million
deficiency)
Pancreatitis
Diet: Total
(in some
fat
adults),
restriction
metabolic
with fat-
syndrome
soluble
(often
vitamin
present)
supplemen
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
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
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
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
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.
Copyright 2010-2014 Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Whitehouse Station, N.J., U.S.A.
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