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‫ﻟﻄﺐ‬
‫ﺍ‬‫ﺔ‬‫ﻴ‬
‫ﻠ‬‫ﻛ‬

‫‪PRI‬‬
‫‪MARYHYPERLI‬‬
‫‪POPROTEI‬‬
‫‪NEMI‬‬
‫‪AS‬‬

‫‪:‬‬
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‫ﻌ‬‫ﺪ ﷲﻣ‬
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‫ﻟ‬‫ﺍ‬

‫‪BI‬‬
‫‪OCHEMI‬‬
‫‪STRY‬‬

‫ﺭ‬
‫ﺎ‬‫ﻤ‬‫ﻌ‬
‫ﻟ‬‫ﺍ‬‫ﺭ‬
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‫ﻴ‬‫‪.‬ﺣ‬
‫ﺩ‬‫‪.‬‬
‫‪:‬ﻡ‬‫ﺍﻑ‬
‫ﺮ‬‫ﺈﺷ‬
‫ﺑ‬

‫ﻔﺤﺔ‪1‬ﻣﻦ‪1‬‬
‫ﻟﺼ‬‫ﺍ‬
 PRI
MARYHYPERLI
POPROTEI
NEMI
AS

Pr
imaryhyper
li
poprot
einemiaisoftengenetic.I
t’
saresul
tof
adef
ectormutati
oninlipopr
otei
ns. Thesechangesresul
tin
pr
obl
emswi thaccumulati
onofli
pidsiny ourbody.

Ty
pesofpr
imar
yhy
per
li
popr
otei
nemi
a:
Ty
peI:

Ty
peIhy
per
li
popr
otei
nemi
aexi
stsi
nsev
eral
for
ms:

•Lipoproteinlipasedef i
ciency(typeIa)
,duetoadef ici
ency
oflipoprotei
nl ipase(LPL)oralteredapoli
poproteinC2,
resulti
nginel ev at
edchy l
omi cr
ons,theparti
clesthattr
ansfer
fatt
yaci dsfrom t hedigesti
vetracttothel
iver

•Famil
ial
apoprot
einCIIdef
ici
ency(ty
peIb),acondi
ti
on
causedbyalackofl
ipoprot
einl
ipaseact
ivator
.

•Chyl
omicronemi
aduet
oci
rcul
ati
ngi
nhi
bit
orofl
ipopr
otei
n
l
ipase(
typeIc)

•TypeIhy perli
poprotei
nemi ausual
l
ypr esentsinchil
dhood
wit
her upt
iv exanthomat aandabdominal coli
c.
Compl i
cationsincludereti
nalvei
nocclusion,acute
pancreati
tis,st
eatosis,andorganomegal y,andli
pemia
ret
inali
s.

2‫ﻣﻦ‬2‫ﻔﺤﺔ‬
‫ﻟﺼ‬‫ﺍ‬
Ty
peI
I

Hyper
li
poprotei
nemiat ypeII,byf art
hemostcommonf or
m,
i
sfurt
herclassi
fi
edintot ypesIIaandI I
b,dependingmai
nly
onwhetherelev
ati
oni nthet ri
glyceri
deleveloccursi
n
addi
ti
ontoLDLchol esterol.

Ty
peI
Ia

Thismaybespor adic(duetodietaryfactors),
polygeni
c,or
trul
yf ami l
ial
asar esultofamut ati
onei t
herintheLDL
recept orgeneonchr omosome19( 0.
2%oft hepopulat
ion)
ortheApoBgene( 0.2%).Thefami l
ial
f or
mi scharacter
ized
bytendonxant homa, xanthel
asma, andpr emat ur
e
cardiov ascul
ardisease.

HLPI I
aisar aregenet icdisor derchar acter izedbyi ncreased
l
ev el
sofLDLchol esterol int hebl oodduet ot helackof
uptake( noApoBr ecept ors)ofLDLpar ti
cl es.These
i
ndi v
idualsmaypr esentwi thauni quesetofphy si
cal
characteristi
cssuchasxant helasmas( y
el lowdeposi t
soff at
underneat htheski nof tenpr esent i
ngi nt henasal por t
ionof
theey e),t
endonandt uber ousxant homas, arcusjuveni l
is
(thegray i
ngoft heey eof tenchar acterizedi nolder
i
ndi v
iduals),arteri
al bruits, claudication,andofcour se
atherosclerosis.Labor ator yf i
ndi ngsf orthesei ndivi
dualsar e
signif
icantfort ot
al serum chol esterollev elstwot ot hree
ti
mesgr eaterthannor mal ,aswel lasincr easedLDL
cholesterol,buttheirt r
igly ceridesandVLDLv aluesf alli
nthe
normal ranges.

3‫ﻣﻦ‬3‫ﻔﺤﺔ‬
‫ﻟﺼ‬‫ﺍ‬
Ty
peI
Ib

ThehighVLDLl evelsareduetoov erproducti

onof
substrat
es,i
ncludingtri
gly
ceri
des, acetyl
-CoA,andan
i
ncreaseinB-100sy nthesi
s.Theymayal sobecausedbythe
decreasedcl
earanceofLDL. Prevalencei nt
hepopulat
ioni
s
10%.

•Fami
li
alcombi
nedhy
per
li
popr
otei
nemi
a(FCH)

•Lysosomalaci
dli
pasedef
ici
ency
,of
tencal
led(
Chol
est
ery
l
est
erstoragedi
sease)

•Secondarycombinedhyper
li
poprot
einemi
a( usual
l
yinthe
contextofmetabol
icsy
ndrome,forwhichi
tisadiagnost
ic
cri
teri
on)

Ty
peI
II

Thisformi sduet ohighchylomi

cronsandIDL(inter
mediate
densityli
popr ot
ein)
.Alsoknownasbr oadbetadiseaseor
dysbetalipoprot
einemia,themostcommoncausef orthi
s
for
mi st hepresenceofApoEE2/ E2genotype.I
tisduet o
cholesterol-
ri
chVLDL( β-VLDL).

Iti
sassociat
edwi t
hhy percholester
olemi a(t
ypi
cal
ly8–12
mmol /
L),hyper
tri
glyceri
demi a(typi
call
y5–20mmol /L),a
normalApoBconcent rati
on,andt wot y
pesofskinsigns
(pal
marxanthomat aoror angediscolorati
onofski
ncr eases,
andtuberoer
uptiv
exant homat aont heelbowsandknees) .I
t
i
scharacteri
zedbyt heear l
yonsetofcar diov
ascul
ardisease
andperi
pheralvasculardisease.

4‫ﻣﻦ‬4‫ﻔﺤﺔ‬
‫ﻟﺼ‬‫ﺍ‬
Remnanthy perli
pidemi aoccur sasar esul
tofabnormal
functionoftheApoEr ecept or,whichisnor mall
yrequi
redfor
clearanceofchy l
omi cronr emnant sandI DLf r
om the
circul
ation.Therecept ordef ectcausesl ev
elsof
chy l
omicronr emnantsandI DLt obehi gherthannormalin
thebloodst ream.Ther eceptordef ectisanautosomal
recessivemut ati
onorpol ymor phi
sm.

Ty
peI
V

Famil
ialhyper
tri
gly
ceri
demiai
sanautosomal
dominant
condi
tionoccurr
inginappr
oxi
mat
ely1%ofthepopul
ati
on.

Thi
sfor
mi sduet
ohi
ghtri
gly
cer
idelev
el.
Otherl
i
popr
otei
n
l
evel
sarenormal
ori
ncr
easedali
ttl
e.

Tr
eat
mentincl
udedi
etcont
rol
,fi
brat
esandniaci
ns.St
ati
ns
ar
enotbet
tert
hanfi
brat
eswhenloweri
ngtr
igl
yceri
del
evels.

Ty
peV

Hyperli
poprotei
nemiaty
peV,alsoknownasmi xed
hyperl
ipoprot
einemi
afamil
ial
ormi xedhy
perl
ipidemia,
is
verysimil
artotypeI
,butwi
thhighVLDLinadditiont
o
chylomicr
ons.

Iti
sal
soassociat
edwi
thgl
ucosei
ntol
eranceand
hyper
uri
cemia.

Uncl
assi
fi
edf
ami
li
alf
orms:

Theseuncl
assi
fi
edf
ormsar
eext
remel
yrar
e:

(
Hyper
alphal
ipopr
otei
nemi
a,Pol
ygeni
chy
per
chol
est
erol
emi
a)

5‫ﻣﻦ‬5‫ﻔﺤﺔ‬
‫ﻟﺼ‬‫ﺍ‬
Ref
rences:
•YoungsonRM(
2005)
."Hy
per
li
pidaemi
a".
Col
l
insDi
cti
onar
yofMedi
cine.

•Hyperl
i
pidemia"
. TheFreeDicti
onar
y.cit
ing:
Dor
land'sMedi
calDict
ionar
yfor
Healt
hConsumer s.Saunders.2007.
andTheAmer icanHeri
tageMedical
Di
cti
onary.HoughtonMiffl
inCompany .2007.

•LintonMF,YanceyPG, Davi
esSS,JeromeWG, Li
ntonEF,SongWL,DoranAC,
VickersKC(2000).
FeingoldKR,AnawaltB,
Boy ceA, Chr
ousosG(eds.
)."
The
RoleofLipi
dsandLipoprotei
nsi
nAt her
oscl
erosis"
.Endotext
.MDText.
com,
I
nc.

6‫ﻣﻦ‬6‫ﻔﺤﺔ‬
‫ﻟﺼ‬‫ﺍ‬