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Spontaneous liver rupture in EhlersDanlos syndrome type IV

Spontaneous liver rupture in EhlersDanlos syndrome type IV

Siew Chien Ng, MRCP and Paolo Muiesan, MD
Eh ler sDa n los sy n dr om e t y pe IV ca n esca pe dia g n osis u n t il t h e dev elopm en t of ca t a st r oph ic com plica t ion s in a du lt life.

CASE HISTORY
A Pa k ist a n i w om a n a g ed 2 3 y ea r s ex per ien ced su dden ch est pa in a n d dy spn oea fiv e da y s a ft er ca esa r ea n sect ion . Ph y sica l ex a m in a t ion , ch est r a diog r a ph y a n d a r t er ia l blood g a s m ea su r em en t s sh ow ed n ot h in g a bn or m a l. Sh e w a s a n t i-coa g u la t ed for r isk of t h r om boem bolic disea se. Six h ou r s la t er sh e r epor t ed r ig h t su bsca pu la r pa in ; h er a bdom en w a s n ow t en se. Ha em og lobin w a s 6 .2 g /dL, pla t elet s 1 1 9 1 0 9 /L, bilir u bin 4 5 m ol/L, a la n in e a m in ot r a n sfer a se 1 0 2 iu /L, a lk a lin e ph osph a t a se 6 5 7 iu /L; pr ot h r om bin t im e w a s n or m a l. A n a bdom in a l t a p y ielded fr a n k blood a n d em er g en cy la pa r ot om y r ev ea led a la r g e su bca psu la r liv er h a em a t om a (n o k n ow n a n t eceden t t r a u m a ). In it ia l pa ck in g of t h e liv er did n ot con t r ol t h e bleedin g a n d sh e r equ ir ed a secon d la pa r ot om y by a liv er su r g eon . On da y t w o sh e w a s st a ble en ou g h t o a llow t r a n sfer t o ou r liv er in t en siv e ca r e u n it . Biph a sic liv er CT (Fig u r e 1 ) sh ow ed t ig h t ly pa ck ed liv er w it h a bn or m a l per fu sion of t h e pa r en ch y m a a n d in t r a h epa t ic h a em a t om a s. Bila t er a l spon t a n eou s pn eu m ot h or a ces t h en dev eloped, r equ ir in g ch est dr a in s. Du r in g fu r t h er la pa r ot om y t h er e w a s u n con t r olled bleedin g fr om t h e liv er , beca u se of com plet e deca psu la t ion . A bn or m a l fr a g ilit y of t h e bow el a n d m esen t er y w a s n ot ed. T h ou g h t w a s g iv en t o t ot a l h epa t ect om y w it h por t oca v a l sh u n t a n d list in g for t r a n spla n t a t ion , bu t t h e t issu es w er e con sider ed u n su it a ble for su ccessfu l t r a n spla n t a t ion a n d fu r t h er effor t s w er e con cen t r a t ed on a ch iev in g h a em ost a sis. Sh e beca m e pr ofou n dly h y pot en siv e a n d h a d a n a sy st olic ca r dia c a r r est . A ft er ca r dia c m a ssa g e, t h e su pr a h epa t ic in fer ior v en a ca v a w a s fou n d t o h a v e com plet ely a v u lsed fr om h er liv er . Fu r t h er r esu scit a t ion effor t s w er e u n su ccessfu l.

Figure 1 Bi phasi c CT sc an i ndi c ati ng b i l ob ar l i v er haematoma

A liv er specim en t a k en a t oper a t ion (Fig u r e 2 ) sh ow ed pa t ch y fibr oin t im a l h y per pla sia of h epa t ic a r t er ioles w it h sm oot h m u scle a n d ela st ic-t issu e h y per t r oph y , con sist en t w it h a con n ect iv e t issu e disor der . T h e pa t ien t 's m edica l h ist or y w a s lik ew ise su g g est iv e. Sh e h a d been bor n w it h bila t er a l clu b foot a n d con t r a ct u r es of h er h a n d a n d h a d been r eg ist er ed h a n dica pped w it h r et a r ded m ot or dela y a t a y ou n g a g e. Sh e h a d h a d sev er a l oper a t ion s for h ea r in g loss a n d h a d been seen by a n oph t h a lm olog ist on a ccou n t of h er pr om in en t g lobes a n d poor closu r e of h er ey elids. T h er e w a s n o fa m ily h ist or y of n ot e ex cept for a br ot h er w it h t r a n sposit ion of t h e g r ea t v essels w h o h a d u n der g on e h ea r t t r a n spla n t a t ion a t a g e 1 8 ; t h er e w a s n o ev iden ce of colla g en disor der in h is ca se a n d h e is cu r r en t ly w ell. T h e pa t ien t w a s a pr im ig r a v ida a n d h er pr eg n a n cy h a d been u n r em a r k a ble. Du r in g h er ca esa r ea n sect ion t h e fa t w a s n ot ed t o be fr ia ble a n d t h e t issu es ex cept ion a lly soft . T h e fin din g s a n d t h e m edica l h ist or y led u s t o dia g n ose Eh ler sDa n los sy n dr om e (EDS) t y pe IV . Con fir m a t ion w ill r equ ir e cu lt u r e of fibr obla st s, t o det ect a bn or m a l colla g en pr odu ct ion , a n d m u t a t ion a n a ly sis.

Figure 2

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Spontaneous liver rupture in EhlersDanlos syndrome type IV

Li v er b i opsy show i ng f i b r oi nti mal hy per pl asi a and smooth musc l e hy per tr ophy

COMMENT
Spon t a n eou s h epa t ic r u pt u r e, w h ich is m ost oft en a ssocia t ed w it h a liv er t u m ou r t og et h er w it h coa g u lopa t h y , 1 is n ot a com m on fea t u r e of EDS. 2 T h e a bn or m a lit y in EDS t y pe IV is a defect of t h e colla g en m ost a bu n da n t in t h e sk in , blood v essels a n d g a st r oin t est in a l t r a ct n a m ely , t y pe III. 3 A ffect ed pa t ien t s w h o u n der g o su r g er y a r e a t r isk of post oper a t iv e a r t er ia l r u pt u r e, per h a ps beca u se su r g ica l t r a u m a in cr ea ses colla g en a se a ct iv it y . 4 In ch ildh ood, com plica t ion s a r e r a r e bu t a qu a r t er of pa t ien t s h a v e t h eir fir st com plica t ion by a g e 2 0 a n d m or e t h a n t h r ee-qu a r t er s by a g e 4 0 . T h e r isk of let h a l com plica t ion s in EDS t y pe IV seem s t o be a u g m en t ed by pr eg n a n cy , a n d is especia lly h ig h du r in g la bou r a n d ea r ly post pa r t u m . In t h e la r g est su r v ey of 'cla ssic' EDS t y pe IV , fa t a l pr eg n a n cy -r ela t ed com plica t ion s dev eloped in 9 1 5 % of w om en w h o beca m e pr eg n a n t ; 5 t h er efor e, t h e desir a bilit y of con cept ion m u st be con sider ed. Beca u se t h e sy n dr om e is in h er it ed in a u t osom a l dom in a n t fa sh ion g en et ic scr een in g is im por t a n t , a n d in t h e fa m ily discu ssed h er e a ll fiv e of t h e pa t ien t 's siblin g s a r e bein g t est ed. In t h e m ot h er a n d sist er , bot h of w h om h a v e a h ist or y of ea sy br u isin g , t est s h a v e a lr ea dy sh ow n fibr obla st s t o be fr ee fr om a colla g en III defect . T h e ch ild w ill n eed t o be t est ed. T h is ca se illu st r a t es t h e difficu lt ies in ea r ly dia g n osis of EDS t y pe IV . Su r g eon s w h o en cou n t er ex t r em e t issu e fr a g ilit y a t oper a t ion sh ou ld t h in k of con n ect iv e t issu e disor der . A lt h ou g h n o specific t h er a pies dela y t h e on set of com plica t ion s in t h ese pa t ien t s, a w a r en ess of t h e clin ica l sig n s a n d k n ow ledg e of t h e dia g n osis m a y in flu en ce r epr odu ct iv e cou n sellin g , t h e m a n a g em en t of pr eg n a n cy a n d su r g ica l in t er v en t ion s.

Article information
J R Soc Med. 2005 July; 98(7): 320322. PMCID: PMC1168920 Siew Chien Ng, MRCP1 and Paolo Muiesan, MD2
1 Department of Hepatology, King's College

Hospital, Denmark Hill, London SE5 9RS, UK Hospital, Denmark Hill, London SE5 9RS, UK

2 Department of Hepatobiliary Surgery, King's College

Correspondence to: Dr S C Ng E-mail: siewchienng/at/yahoo.co.uk Copyright 2005, The Royal Society of Medicine This article has been cited by other articles in PMC. Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

References
1. Ch en ZY , Qi QH, Don g ZL. Eti ol ogy an d m an agem en t of h aem orrh age i n spon tan eou s l i v er ru ptu re: a report of 70 cases. Worl d J Gastroen terol 2002;8: 1063-6. [Pu bMed] 2. Mi stry BM, Sol om on H, Garv i n P, e t al. Spon tan eou s ru ptu re of th e l i v er u pon rev ascu l ari zati on du ri n g tran spl an tati on . Tran spl an tati on 2000;69: 2214-18. [Pu bMed] 3. Tu cker L. Heri tabl e di sorders of con n ecti v e ti ssu e an d di sabi l i ty an d ch ron i c di sease i n ch i l dh ood. Cu rr Opi n
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Spontaneous liver rupture in EhlersDanlos syndrome type IV

Rh eu m atol 1992;4: 731-40. [Pu bMed] 4. Barabas A P. Eh l ersDan l os sy n drom e ty pe IV . N En gl J Med 2000;343: 366. [Pu bMed] 5. Pepi n M, Sch warze U, Su perti -Fu rga A , e t al. Cl i n i cal an d gen eti c featu res of Eh l ersDan l os ty pe IV , th e v ascu l ar ty pe. N En gl J Med 2000;342: 673-80. [Pu bMed]

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