Troubles du métabolisme du fer

IV#45&TROUBLES&DU&METABLISME&DU&FER&
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1!
Troubles&du&métabolisme&du&fer!
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1. Carences&en&fer&:&
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1.1 Les&stades&:&
"!#$%&'#!#'()*!(+,-.)/$%*0'!&'!(%!&12,0,'*0'!'*!2'/!3!!
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• La&simple&déplétion&des&réserves&tissulaires,!0%/%0$1/,#1'!.%/!4*'!5%,##'!,#)(1'!&'!(%!2'//,$,*1-,'6!
,*21/,'4/'!7!89!:;<=6!#%*#!&12,0,$!&'!(+1/>$?/).)@A#'!!
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• La&déplétion&des&réserves!#+%00)-.%;*%*$!&+4*'!&12,0,'*0'!&'!(+1/>$?/).)@A#'B!!
C D!(+?>.)2'//,$,*1-,'!#+%##)0,'!4*'!5%,##'!&'!(%!#,&1/1-,'!'$!&'!(%!#%$4/%$,)*!&'!(%!
$/%*#2'//,*'B!!
C D!0'!#$%&'6!.(4#,'4/#!.%/%-A$/'#!1/>$?/)0>$%,/'#!#)*$!%*)/-%4E!3!4*'!&,-,*4$,)*!&4!
F)(4-'!;()54(%,/'!-)>'*!GHIJK!'$!&'!(%!0)*0'*$/%$,)*!0)/.4#04(%,/'!-)>'**'!'*!
?1-);()5,*'!GLLMJK6!%F'0!4*'!%4;-'*$%$,)*!&4!$%4E!&'!./)$).)/.?>/,*'!1/>$?/)0>$%,/'!
'$!4*'!&,-,*4$,)*!&4!$%4E!&'!2'//,$,*'!1/>$?/)0>$%,/'!!
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• L’anémie&ferriprive!#$/,0$)!#'*#46!0%/%0$1/,#1'!.%/!4*'!&,-,*4$,)*!&4!$%4E!&+?1-);()5,*'B!!
# =%!0%/'*0'!-%/$,%('!'#$!&'!(),*!(%!0%4#'!(%!.(4#!2/1N4'*$'!&+%*1-,'!-,0/)0>$%,/'!
?>.)0?/)-'!#,&1/).1*,N4'B!!
# =%!#,&1/).1*,'!.'4$!/'('F'/!&+4*'!,*#422,#%*0'!&+%..)/$6!&+4*'!-%(%5#)/.$,)*!&,;'#$,F'!
)4!&'!.'/$'#!'E0'##,F'#6!*)$%--'*$!?1-)//%;,N4'#6!('!.(4#!#)4F'*$!/1.1$1'#!'$!
&,#$,((%*$'#!3!
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1.2 Les&causes&:&
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a) L’insuffisance&d’apport&en&fer&:&
C O/1N4'--'*$!0?'P!('!nourrisson!/'0'F%*$!4*'!%(,-'*$%$,)*!'E0(4#,F'-'*$!(%0$1'!*'!0)4F/%*$!
.%#!('#!5'#),*#!'*!2'/!&+4*!'*2%*$!&'!-),*#!&'!8!%*!
C L?'P!(+'*2%*$!&'!.(4#!&'!8!%*6!4*'!%(,-'*$%$,)*!.%4F/'!'*!2'/!0)*&4,$!./);/'##,F'-'*$!7!
(+,*#$%((%$,)*!&+4*'!%*1-,'!-,0/)0>$%,/'6!&+%4$%*$!.(4#!N4'!(%!0/),##%*0'!'#$!/%.,&'B!!
C =%&grossesse!-4($,.(,'!.%/!$/),#!('#!5'#),*#!'*!2'/!0?'P!(%!2'--'6!.4,#N4'!('!2)'$4#!'*!./'*&!(4,!
-Q-'!"RR!-;B!S'!-Q-'6!(%!(%0$%$,)*!&'-%*&'!&'!#4..(1-'*$'/!(+%(,-'*$%$,)*B!!
C =%!0%/'*0'!&+%..)/$!'#$!/%/,##,-'!0?'P!(+?)--'!%&4($'!#)4#!*)#!0(,-%$#6!-%,#!'(('!'#$!.)##,5('!
0?'P!('!F,',((%/&!,#)(1!'$!#)0,%('-'*$!&1-4*,B!!
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b) Malabsorption&digestive&:&
C L'#!0%/'*0'#!'*!2'/!#)*$!#)4F'*$&mixtes!G.%/!'E'-.('!3!2'/6!./)$1,*'#6!F,$%-,*'!T89!'$<)4!
2)(%$'#KB!!
C U(('#!#)*$!&+)/,;,*'!;%#$/,N4'!)4!,*$'#$,*%('B!!
C ='#!/1;,-'#!%(,-'*$%,/'#!$/).!/,0?'#!'*!.?>$%$'#!G.%/!'E'-.('!(%!/?45%/5'K6!'*!.?)#.?%$'#!G.%/!
'E'-.('!(+%(,-'*$%$,)*!(%0$1'K!)4!'*!$%*,*#!G.%/!'E'-.('!('!$?1K!)*$!7!4*!&';/1!-),*&/'!4*!'22'$!
#,-,(%,/'6!'*!0?1(%$%*$!('!2'/B!!
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2!
c) Pertes&excessives&:&
C M1-)//%;,'#!0(,*,N4'-'*$!1F,&'*$'#!!#)4/0'!&'!.'/$'!,-.)/$%*$'!&'!2'/!
C M1-)//%;,'#!-,*,-'#!0?/)*,N4'#6!&,#$,((%*$'#6!&'!(+)/&/'!&'!8R!7!9R!-=<V!&'!#%*;!.'4F'*$!
2%0,('-'*$!.%##'/!,*%.'/W4'#!&4!-%(%&'B!U(('#!#+%00)-.%;*'*$!*1%*-),*#!7!()*;!$'/-'!&+4*!
1.4,#'-'*$!&'#!/1#'/F'#!-%/$,%('#B!!
C M1-)//%;,'#!;1*,$%('#!0?'P!(%!2'--'!3!.%/-,!('#!0%4#'#!-%V'4/'#!&+%*1-,'!?>.)0?/)-'6!N4+,(!
#+%;,##'!&'!-1*)//%;,'#!)4!&'!-1$/)//%;,'#B!!
C X%,;*'-'*$#!&,;'#$,2#!3!?1-)//)@&'#6!?'/*,'#!?,%$%('#6!;%#$/,$'#!?1-)//%;,N4'#6!4(0A/'#!
;%#$/)&4)&1*%4E6!F%/,0'#!)'#).?%;,'**'#6!/'0$)0)(,$'!?1-)//%;,N4'6!%*;,)&>#.(%#,'#!
,*$'#$,*%('#6!.)(>.'#!0)(,N4'#!'$!0%*0'/#!;%#$/)C,*$'#$,*%4EB!!
C S%*#!('#!.%>#!0?%4&#6!(+%*Y>()#$)-,%#'!&),$!Q$/'!1F)N41'!&'F%*$!4*'!%*1-,'!-,0/)0>$%,/'B!!
C U.,#$%E,#!/10,&,F%*$'#!3!0%4#'!0(%##,N4'!&+%*1-,'!-,0/)0>$%,/'!
C =%!.'/$'!&'!2'/!'#$!1;%('-'*$!)5#'/F1'!&%*#!('#!?1-)(>#'#!0?/)*,N4'#!,*$/%F%#04(%,/'#!.%/!
?1-)#,&1/,*4/,'!'$<)4!?1-);()5,*4/,'B!!
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2. Surcharges&en&fer&:!
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2.1 &&Syndrome&clinique&de&la&surcharge&en&fer&:&&
='#!#,;*'#!&+%..'(!&+4*'!#4/0?%/;'!'*!2'/!#)*$!*)-5/'4E6!.)(>-)/.?'#!'$!.'4!#.10,2,N4'#!3!
%#$?1*,'6!-1(%*)&'/-,'6!)#$1)%/$?/).%$?,'6!?1.%$).%$?,'6!0%/&,)->).%$?,'6!&,%5A$'6!
?>.);)*%&,#-'6!#>*&/)-'!'E$/%.>/%-,&%(6!0>$)(>#'!)4!%4;-'*$%$,)*!&4!0%/5)?>&/%$'!%*$,;'*!GLZK!
8[C[!#1/,N4'!.'4F'*$6!,#)(1#!)4!&,F'/#'-'*$!%##)0,1#6!/'*&/'!0)-.$'!&+4*'!#4/0?%/;'!'*!2'/B&
\(!2%4$!$)4$'2),#!#)4(,;*'/!N4'!*)-5/'!&'!#4/0?%/;'#!'*!2'/!&'-'4/'*$!()*;$'-.#!%#>-.$)-%$,N4'#!
'$!*'!#)*$!1F)N41'#!N4'!&'F%*$!&'#!%*)-%(,'#!&4!5,(%*!-%/$,%(!&10)4F'/$'#!&'!2%W)*!2)/$4,$'B!!
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='!#>*&/)-'!0(,*,N4'!&'!(%!#4/0?%/;'!'*!2'/!,*$1/'##'!3!
C ('!0)'4/6!!
C ('!2),'6!!
C ('#!;(%*&'#!'*&)0/,*'#6!!
C ('#!)#!!
C '$!('#!%/$,04(%$,)*#B!!
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='#!0)-.(,0%$,)*#!#)*$!.)$'*$,'(('-'*$!;/%F'#!.4,#N4+'(('#!.'4F'*$!./)F)N4'/!('!&10A#!&'#!.%$,'*$#B!!
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• Complications&cardiaques&:&
o U(('#!#+'E./,-'*$!7!4*!stade&tardif!&'!(%!#4/0?%/;'!'*!2'/!
o ]*!.'4$!%F),/!3!
 M>.'/$/).?,'!F'*$/,04(%,/'!;%40?'!
 U.%*0?'-'*$!.1/,0%/&,N4'!
 ^/)45('#!&4!/>$?-'!)4!&'!(%!0)*&40$,)*!!
 \*#422,#%*0'!0%/&,%N4'!0)*;'#$,F'!
o =%!#4/0?%/;'!-%/$,%('!&4!0_4/!/'*&!0)-.$'!%4V)4/&+?4,!&'!`R!7!aR!b!&'#!&10A#!&%*#!
(%!$?%(%##1-,'B!!
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IV#45&TROUBLES&DU&METABLISME&DU&FER&
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• Complications&hépatiques&:&
o =+'E0A#!&'!2'/!?1.%$)0>$%,/'!,*&4,$!&'#!lésions&de&fibrose!N4,!.'4F'*$!1F)(4'/!F'/#!
4*'!cirrhose!&%*#!('#!2)/-'#!('#!.(4#!%F%*01'#6!F),/'!&'!cancers!
o =%!0,//?)#'!*+'*;%;'!.%#!('!./)*)#$,0!F,$%(!7!0)4/$!$'/-'6!-%,#!0)*$/,54'!7!%()4/&,/!(%!
-)/5,&,$1!0?'P!('#!.%$,'*$#!#4/0?%/;1#!'$!.%/$,0,.'!%4E!./,*0,.%('#!0%4#'#!&'!&10A#!
&%*#!(+?1-)0?/)-%$)#'!;1*1$,N4'!0)--'!&%*#!(%!$?%(%##1-,'B!!
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• Complications&endocriniennes&:&
o L?'P!(%!2'--'!!-1*).%4#'!./10)0'!!
o L?'P!(+?)--'!!&,-,*4$,)*!&'!(%!(,5,&)!c!!,-.4,##%*0'!c!%$/).?,'!$'#$,04(%,/'B!!
o L?'P!('#!%&)('#0'*$#!!(%!.45'/$1!'#$!#)4F'*$!/'$%/&1'6!F),/'!%5#'*$'!d!('#!#,;*'#!
.45'/$%,/'#!./);/'##'*$!('*$'-'*$!'$!&'-'4/'*$!#)4F'*$!,*0)-.('$#B!!
o ='!2/1N4'*$!retard&statural6!-%V)/1!.%/!('!/'$%/&!.45'/$%,/'6!.%/%e$!#'0)*&%,/'!7!4*'!
,*#422,#%*0'!&'#!#)-%$)-1&,*'#!.4,#N4'!(%!#10/1$,)*!&+?)/-)*'#!&'!0/),##%*0'!'#$!
*)/-%('!0?'P!(%!.(4.%/$!&'#!-%(%&'#B!!
o ='#!#,;*'#!&+?>.)$?>/)@&,'!-%*,2'#$'#!)4!0)-.'*#1#!#)*$!2/1N4'*$#!0?'P!('#!
-%(%&'#!#4/0?%/;1#!'*!2'/6!&'!-Q-'!N4'!(+?>.).%/%$?/>/)@&,'!&)*$!(%!
#>-.$)-%$)();,'!.'4$!Q$/'!#1FA/'B!!
o ='!diabète&insulinodépendant!.'4$!0)-.(,N4'/!(%!#4/0?%/;'!'*!2'/!!
 !\(!#+%;,$!&+4*'!0)-.(,0%$,)*!$%/&,F'!&'!(+?1-)0?/)-%$)#'!;1*1$,N4'6!$/A#!
#)4F'*$!%##)0,1'!7!4*'!0,//?)#'6!&%*#!fR!b!&'#!0%#B!!
 L?'P!('#!-%(%&'#!$?%(%##1-,N4'#!.)(>$/%*#24#1#!&'.4,#!(+'*2%*0'6!0'!&,%5A$'!
0)*#$,$4'!4*'!0%4#'!&'!-)/$%(,$1!.%/!0)-%!%0,&)01$)#,N4'B!!
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• Complications&ostéo#articulaires&:&
o ]#$1).)/)#'6!('!.(4#!#)4F'*$!%#>-.$)-%$,N4'6!'$!%/$?/).%$?,'6!.%/2),#!/1F1(%$/,0'B!!
o =+%$$',*$'!0%/%0$1/,#$,N4'!'#$!4*'!%/$?/,$'!0?/)*,N4'!,*$1/'##%*$!('#!%/$,04(%$,)*#!
-1$%0%/.).?%(%*;,'**'#!&%*#!(+?1-)0?/)-%$)#'!;1*1$,N4'B!!
o L?'P!('#!-%(%&'#!$?%(%##1-,N4'#!.)(>$/%*#24#1#6!(+%$$',*$'!)#$1)%/$,04(%,/'!,*$1/'##'!
.(4#!F)()*$,'/#!('!/%0?,#!'$!('#!$Q$'#!21-)/%('#!7!(+)/,;,*'!&'!2/%0$4/'#!.%$?)();,N4'#!
'$!&'!*10/)#'#!&'!?%*0?'B!!
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• Complications&infectieuses&:&
o U*2,*6!(%!#4/0?%/;'!'*!2'/!#'/%,$!4*!2%0$'4/!2%F)/,#%*$!('!&1F'()..'-'*$!&'!0'/$%,*'#!
,*2'0$,)*#6!*)$%--'*$!(%!$45'/04()#'!%4!0)4/#!&'!(+?1-)0?/)-%$)#'!%2/,0%,*'B!!
o S'!(%!-Q-'!2%W)*6!('#!.%$,'*$#!0)*$%-,*1#!.%/!('!F,/4#!&'!(+,--4*)&12,0,'*0'!
?4-%,*'!GH\MK!#'-5('*$!1F)(4'/!&+%4$%*$!.(4#!/%.,&'-'*$!F'/#!('!#$%&'!#,&%!&'!(%!
-%(%&,'!N4'!('4/!&';/1!&'!#4/0?%/;'!'*!2'/!'#$!,-.)/$%*$B!!
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2.2 &&Biologie&de&la&surcharge&en&fer&:&
=%!5,)();,'!-%/$,%('!0)4/%*$'!G2'/!#1/,N4'6!#%$4/%$,)*!&'!(%!$/%*#2'//,*'!'$!2'//,$,*1-,'K!&),$!Q$/'!
,*$'/./1$1'!&'!-%*,A/'!/,;)4/'4#'!0%/!3!!
C ?>.'/#,&1/1-,'6!1(1F%$,)*!&4!0)'22,0,'*$!&'!#%$4/%$,)*!&'!(%!$/%*#2'//,*'!GLX^K!'$!
?>.'/2'//,$,*1-,'!*'!$1-),;*'*$!.%#!$)4V)4/#6!(),*!#+'*!2%4$6!&+4*'!#4/0?%/;'!'*!2'/!!
C #4/0?%/;'!'*!2'/!*+'#$!%5#)(4-'*$!.%#!#>*)*>-'!&+?1-)0?/)-%$)#'!&%*#!(%!-'#4/'!)g!0'!
$'/-'!&1#,;*'!4*'!%22'0$,)*!5,'*!./10,#'6!0%/%0$1/,#1'!.%/!4*'!#4/0?%/;'!'*!2'/!&'!
$/%*#-,##,)*!%4$)#)-,N4'!/10'##,F'!M=Z!(,1'B!!

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4!
C U*!0%#!&'!#4#.,0,)*!&'!#4/0?%/;'!'*!2'/6!('!&)#%;'!&'!(%!2'//,$,*1-,'!'#$!;1*1/%('-'*$!('!
./'-,'/!'E%-'*!&'-%*&1B!=+%5#'*0'!&+?>.'/2'//,$,*1-,'!.'/-'$!&+10%/$'/!('!&,%;*)#$,0!&'!
#4/0?%/;'!'*!2'/B!!
C D!(+,*F'/#'6!*)-5/'4#'#!#)*$!('#!0%4#'#!&+?>.'/2'//,$,*1-,'!*)*!(,1'!7!4*'!%4;-'*$%$,)*!&4!
#$)0Y!'*!2'/!&'!(+)/;%*,#-'B!!
C L'!*+'#$!N4+%./A#!%F),/!1(,-,*1!0'#!#,$4%$,)*#!N4+,(!'#$!.)##,5('!&'!0)*#,&1/'/!N4'!
(+?>.'/2'//,$,*1-,'!$1-),;*'!5,'*!&+4*'!#4/0?%/;'!'*!2'/B!!
C =%!&1-%/0?'!&,%;*)#$,N4'!#+%..4,'!%()/#!#4/!(%!&1$'/-,*%$,)*!&4!LX^!3!!
o (%!*)/-%(,$1!)4!%!2)/$,)/,!(%!&,-,*4$,)*!&4!LX^!.'/-'$!&+10%/$'/!%F'0!0'/$,$4&'!('!
&,%;*)#$,0!&+?1-)0?/)-%$)#'!'$!&,#.'*#'6!'*!./%$,N4'6!&'!(%!/'0?'/0?'!&'!(%!
-4$%$,)*!MOUCGL9f9hK!'*!0%4#'!&%*#!0'$$'!%22'0$,)*!!
o (+%4;-'*$%$,)*!&4!LX^!.'4$!Q$/'!('!2%,$!&+4*'!?1-)0?/)-%$)#'!0)--'!&+4*'!
#4/0?%/;'!'*!2'/!*)*!?1-)0?/)-%$)#,N4'!'$!%..'(('!&)*0!(%!/'0?'/0?'!&'!(%!
-4$%$,)*!MOUCGL9f9hK!%2,*!&'!$/%*0?'/!'*$/'!0'#!&'4E!.)##,5,(,$1#!G()/#N4'!0'!$%4E!
'#$!#4.1/,'4/!7!ij!bK!
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2.3 &&Étiologies&des&surcharges&en&fer&&
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2.3.1 HEMOCHROMATOSE&GENETIQUE&3!M1-)0?/)-%$)#'!&'!$>.'!8&
!
a) Généralités&:&
C J%(%&,'!?1/1&,$%,/'6!&'!$/%*#-,##,)*!%4$)#)-,N4'!/10'##,F'B!!
C O/1N4'*0'!&'#!.)/$'4/#!?1$1/)P>;)$'#!&4!;A*'!-4$1!k!'*F,/)*!8R!b!&'!(%!.).4(%$,)*!
C I/%*&'!2/1N4'*0'!0?'P!('#!#4V'$#!&'!/%0'!5(%*0?'!Gj!lK!
C L+'#$!(%!première&maladie&génétique&en&FranceB!U(('!%$$',*$!8!O/%*W%,#!#4/!"RR6!#),$!9RR!RRR!
.%$,'*$#!'*!O/%*0'6!9!9RR!RRR!'*!U4/).'6!9!RRR!RRR!%4E!mXZB!
C J%(%&,'!&'!/1F1(%$,)*!$%/&,F'!3!"RCiR!%*#!0?'P!(+?)--'!'$!iRCjR!%*#!0?'P!(%!2'--'!!
C J%(%&,'!&4'!7!4*'!%5#)/.$,)*!'E0'##,F'!&4!2'/!%(,-'*$%,/'!%4!*,F'%4!&4!&4)&1*4-B!L'$$'!
?>.'/%5#)/.$,)*6!&4'!7!4*'!%*)-%(,'!;1*1$,N4'6!%5)4$,$!7!4*'!%004-4(%$,)*!./);/'##,F'!&'!2'/!
'$!7!4*'!&'#$/40$,)*!&'!$)4#!('#!)/;%*'#!%4!0)4/#!&'!(%!F,'!3!('!2),'6!('!.%*0/1%#6!('!0_4/6!('#!
;(%*&'#!'*&)0/,*'#6!('#!%/$,04(%$,)*#!'$!(%!.'%4B!
!
b) Clinique&:!%##)0,'!&,F'/#'-'*$!3!
C 4*'!%($1/%$,)*!&'!(+1$%$!;1*1/%(!G%#$?1*,'K6!!
C 4*'!)#$1)%/$?/).%$?,'!!
C '$!4*'!#4/0?%/;'!'*!2'/!./);/'##,F'!&4!2),'!G0,//?)#'!'$!0%*0'/K6!&4!.%*0/1%#!G&,%5A$'K!'$!&4!
0)'4/!G0%/&,)->).%$?,'KB!!
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c) Génétique&:&
C U(('!'#$!(,1'!7!(+'E,#$'*0'!&+4*'!-4$%$,)*!GL!9f9!hK!#4/!('!;A*'!MOU!8!.)/$1!.%/!('#!&'4E!
chromosomes&6!'$!/'#.)*#%5('!&+4*'!?>.'/%5#)/.$,)*!&,;'#$,F'!&'!2'/B!
C ='!./)&4,$!&'!0'!;A*'!'#$!4*'!./)$1,*'!$/%*#-'-5/%*%,/'!&'!"i"!/1#,&4#6!0)//'#.)*&%*$!7!4*'!
*)4F'(('!-)(104('!M=Z!&'!0(%##'!\!'$!4*'!-4$%$,)*!'*$/%e*%*$!('!/'-.(%0'-'*$!&+4*'!0>#$1,*'!
.%/!4*'!$>/)#,*'!7!(%!.)#,$,)*!9f9!GL9f9hK!%!1$1!/'$/)4F1'!7!(+1$%$!?)-)P>;)$'!0?'P!aR!7!8RR!b!
&'#!-%(%&'#!%$$',*$#!&+?1-)0?/)-%$)#'B!!
C L'$$'!-4$%$,)*!'-.Q0?'!(%!2)/-%$,)*!&+4*!.)*$!&,#4(24/'!&)*$!(+,*$1;/,$1!'#$!*10'##%,/'!7!(%!
#$/40$4/'!#'0)*&%,/'!'$!$'/$,%,/'!&4!&)-%,*'!&+,*$'/%0$,)*!%F'0!(%!5C9C-,0/);()54(,*'!'$!*'!
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