Spontaneous liver rupture in Ehlers–Danlos syndrome type IV

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Spontaneous liver rupture in EhlersDanlos syndrome type IV

Siew Chien Ng, MRCP and Paolo Muiesan, MD

EhlersDan los sy ndrom e ty pe IV ca n escape diag nosis un til the dev elopm ent of cata strophic

complicat ions in adu lt life.

CASE HISTORYA Pa kistan i w om an a ged 2 3 y ea r s ex per ie n ced su dden ch est pa in an d d y spn oea fiv e d a y s a ft er

caesarean section. Phy sical exam ination, chest radiography and ar terial blood gas m easurements

showed nothing a bnorm al. She w as anti-coag ula ted for risk of throm boem bolic disease. Six hour s later

she reported righ t subscapular pain; h er abdomen w as now tense. Haem oglobin w as 6.2 g/dL, platelets

1 1 9 1 0 /L, bil irubin 45 m ol/L, alanine a m i n otran sferase 102 iu/L, alkaline phosphat ase 65 7 iu/L;

prothr om bin time wa s norm al. An a bdom inal tap y ielded frank blood and em ergency laparotom y

rev ealed a lar ge subcapsular liver h aem atoma (no known a ntecedent trau m a). Initial packing of the

liver did not c ontrol the bleeding and she required a second laparotom y by a l iv er surgeon. On day two

she wa s stable enoug h to allow tr an sfer to ou r li v er in ten siv e c a r e u n it . Biph asic li v er CT (Figure 1 )

showed tightly packed liver w ith abnorm al perfusion of the parenchy m a and intra hepatic

haem atoma s. Bilateral spontan eous pneum othoraces then developed, r equiring chest drains. Dur ing

further laparotom y there w as un controlled bleeding from the l iv er, because of com plete decapsulation.

A bn or m al fr a g il it y of t h e b ow el a n d m ese n ter y w as n oted. Th ou g h t w as g iv en to t ota l h epatec tom y

w it h por tocav a l sh u n t an d l istin g for tr a n spl a n ta tion , bu t th e t issu es w er e c on sider ed u n su it a bl e for

successful tra nsplanta tion a nd furth er efforts w ere concentra ted on a chiev ing ha emostasis. She

becam e p r ofou n dly h y pot en siv e a n d h ad a n a sy st oli c car dia c ar r est . A ft er car dia c m assa g e, th e

suprahepatic inferior v ena cav a wa s found to hav e com pletely av ulsed from h er l iver. Furth er

resuscitation efforts w ere un successful.

Figu re 1

Biphasic CT scan indicati ng bil obar li ver haematoma

A li v er spe ci m en ta ken a t oper a tion (Figu re 2 ) showed patchy fibrointima l hy perplasia of hepatic

arterioles with smooth m uscle and elastic-tissue hy pertr ophy , consistent w ith a connectiv e t issue

disorder. Th e patient 's m edical history w as l ikewise suggestive. She h ad been born with bilateral club

foot an d contra ctur es of her h and a nd ha d been registered handicapped with retarded m otor delay at a

y ou n g age. Sh e h ad h a d sev er a l oper at ion s for h ea r in g loss a n d h ad b een see n by an oph th a lm olog ist on

accoun t of her promin ent globes an d poor closur e of her ey elids. Ther e was no fam ily history of note

except for a brother with tran sposition of the great v essels who had u ndergone heart tr ansplantation at

age 1 8; there w as no ev idence of collagen disorder in his case and he is curr ently well . The patient w as

a primigra v ida a nd her pregnancy had been u nrema rkable. During her caesarean sect ion th e fat was

noted to be fria ble and the tissues exceptionally soft. The findings an d the m edical history led us to

diagn ose EhlersDan los sy ndrom e (EDS) ty pe IV. Confirm ation w ill require cu ltur e of fibroblasts, to

detect abnorma l collagen production, and m uta tion an aly sis.

Figu re 2

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Liv er biopsy showi ng fibr ointimal hy perpl asia and smooth muscl e hyper trophy

COMMENT

Spontan eous hepatic ruptur e, wh ich is most often associated with a l iv er tum our together w ith

coagu lopathy , is not a comm on featur e of EDS. The abnorm ality in EDS ty pe IV is a defect of the

collagen m ost a bundant in th e skin, blood v essels and ga strointestinal tr actnam ely , ty pe III. Affected

patients who undergo sur gery are at risk of postoperativ e arterial r uptur e, perha ps because sur gical

trau m a increases collagenase activ ity . In childhood, com plications are ra re but a quarter of patients

hav e their first com plication by a ge 20 a nd m ore tha n th ree-qua rters by a ge 40. Th e risk of letha l

com plications in EDS ty pe IV seems to be aug m ented by pregnan cy , an d is especially high during

labour and ear ly postpartu m . In th e largest surv ey of 'classic ' EDS ty pe IV, fata l pregnan cy -related

com plications developed in 915 % of women w ho becam e pregnant; therefore, the desirability of

conception m ust be considered. Becau se th e sy ndrom e is inh erited in aut osoma l dom ina nt fashion

genetic screening is importa nt, a nd in the fam ily discussed here all fiv e of the patient 's siblings ar e

bein g test ed. In th e m oth er an d sister , bot h of w h om h av e a h istor y of e a sy br u isin g , test s h av e a lr ea dy

shown fibroblasts to be free from a collagen III defect. The child w ill need to be tested.

This case illustrat es th e difficulties in early diagn osis of EDS ty pe IV. Su rg eons wh o encount er extr em e

tissue frag ility at operation should think of connectiv e tissue disorder. Alth ough n o specific thera pies

delay th e onset of com plications in these patien ts, aw ar eness of th e clinical signs an d knowledge of th e

diagnosis m ay influence reproductiv e counselling, the ma nag ement of pregnan cy and surgical

interv entions.

Article information

J R Soc Med. 2005 July; 98(7): 3203 22.

PMCID: PMC1168920

Siew Chien Ng, MRCP and Paolo Muiesan, MD

Department of Hepa tology, King's College Hospital, Denmark Hill, London SE5 9RS, UK

Department of Hepa tobiliary Surgery, King's Colle ge Hospital, Denmark Hill, London SE5 9RS, UK

Correspondence to: Dr S C Ng E-mail: siewchienng/at/yahoo .co.uk

Copyright 2005 , The Royal Society of Medicine

This article has be en cited by other a rticles in PMC.

Articles from Journa l of the Royal Society of Medicine are provided here courtesy of Royal Society of Me dicine Press

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Spontaneous liver rupture in Ehlers–Danlos syndrome type IV