Ochronosis diagnosed after knee arthroscopy

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InternationalJournalofSurgeryCaseReports5(2014)497–499

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International

Journal

of

Surgery

Case

Reports

j o u r n al ho m e p a g e :w w w . c a s e r e p o r t s . c o m

Ochronosis

diagnosed

after

knee

arthroscopy

Adnan

Kara

_,

_Haluk

_Celik

_,

_Ali

_Seker

_,

_Hasan

_Basri

_Sezer

_,

_Eray

_Kilinc

_,

_Metin

_Uzun

a_{DepartmentofOrthopaedicsandTraumatology,IstanbulMedipolUniversity,Istanbul,Turkey} b_{SisliEtfalTrainingandResearchHospitalOrthopaedicsandTraumatologyClinic,Istanbul,Turkey} c_{AcibademMaslakHospital,Istanbul,Turkey}

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Articlehistory: Received3April2014

Receivedinrevisedform9June2014 Accepted9June2014

Availableonline16June2014

Keywords: Ochronosis Arthroscopy Knee

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INTRODUCTION:Ochronosisisararedisorderwhichisdefinedasthedepositionofmetabolitesof

oxi-dationandpolymerizationofhomogentisicacid,whichhavehighaffinitytocollogen,intheconnective

tissues.Itisaclinicalconditioncharacterizedwithochronoticpigmentationoftissues,degenerative

arthropathyofespeciallylargejointsandblackdiscolorationofurine.Inthispaperwepresentacaseof

ochronosisdiagnosedwithbiopsyandadditionaltestswhenablackdiscolorationofmenisciandjoint

cartilageweredetectedduringarthroscopicinterventionforadegenerativemeniscustear.

PRESENTATIONOFCASE:Afortytwoyear-oldmalepatientwasoperatedforlateralmeniscustearofhis

rightknee.Thearthroscopicexaminationofrightkneerevealedblackcoloredsynovialhypertrophyand

tornlateralmeniscus.Partialmeniscectomywasperformed.Thediagnosisofochronosiswasmadeafter

histopathologicexamination.

DISCUSSION:Ochronoticpigmentcanaccumulateinhyalinecartilage,tendon,skin,teeth,nail,sclera,

tympanicmembrane,heartvalves,renaltubularcells,duramater,pancreasandwallsoflargearteries.

Inochronosisthemostfrequentlyinvolvedjointsarekneeandhip.Inochronoticarthropathy,articular

cartilagebecomemoresensitivetomechanicalstresses.Ourpatienthadmeniscaltear,cartilagedamage

andblackdiscolorationofsynovialtissuesandmeniscus.

CONCLUSION:Arthroscopymaybehelpfulindiagnosisofochronoticarthropathy.

©2014TheAuthors.PublishedbyElsevierLtd.onbehalfofSurgicalAssociatesLtd.Thisisanopen

accessarticleundertheCCBY-NC-NDlicense(http://creativecommons.org/licenses/by-nc-nd/3.0/).

1. Introduction

Ochronosisis defined asthe accumulationof metabolitesof

oxidationand polimerizationofhomogentisicacid(HGA)inthe

connectivetissues,whichhavehighaffinitytocollogen.1,2_Because

ofthedefectoccurredinthegenewhichcodeshomogentisate1,2

dioxygenaselocated onthe3q chromosome,homogentisicacid

accumulatesin tissues and excretedin urine.1 _{Ochronosismay}

affectcartilage, intervertebral discs, skinand sclera. Symptoms

relatedtocardiovascular,genitourinaryand pulmonarysystems

maybepresent.3

Ochronosis is seen mostly in adults and peaks in the forth

decade.1,4_{Withincreasingagecomplaintsofhip,knee,shoulder}

andspinejointsmayappear. Althoughochronoticpigmentation

oftissues,blackdiscolorationofurinedue tosodiumhydroxide

(NAOH),degenerativearthropathyoflargejointsareclassical

find-ings,definitivediagnosisismadewithquantitativedetectionof

homogentisicacidintheurineanddetectionof ochronotic

pig-mentationinthehistopathologicexaminationoftissuebiopsies.4,5

∗ Correspondingauthorat:MedipolMegaHastane,TEMAvrupaOtoyoluGoztepe C¸ıkıs¸ıNo.:1,Bagcilar,Istanbul,Turkey.Tel.:+905323262202;fax:+902124607070.

E-mailaddress:aliseker@doctor.com(A.Seker).

Inthispaperwepresentacasecomplainingofkneepainand

havingarthroscopicallydetectedblackdiscolorationofmenisciand

cartilagewhichledustothebiopsyandfurtherlaboratorytestsand

finallydiagnosedasochronosis.

2. Presentationofcase

Afortytwoyear-oldmaleadmittedtoouroutpatientclinicwith

rightkneepainandclickingonexertionfortwoyears.Therewas

nohistory of trauma.Physicalexamination revealed kneejoint

effusion.Therewascompleterangeofmotiondespitepain

dur-ing thelast 30◦ of flexion. There waspain on thelateral joint

linebypalpationandMcMurraytestwaspositive.Therewasno

instability.X-rayrevealedarthrosisinthelateraltibiofemoraland

patellofemoraljointspaces.Magneticresonanceimaging(MRI)of

therightkneerevealedeffusion,partiallytornanteriorcruciate

lig-ament,thickeningofquadricepstendon.Wedecidedtoperforman

arthroscopicinterventionbecauseoffailedconservativetreatment.

Thearthroscopicexaminationofrightkneerevealedblack

col-ored synovialhypertrophy. Therewere3cm×2cm indiameter

Outerbridgestage4chondraldefectinpatellarjointsurfaceand

medialfemoralcondyle.Defectiveareaswereblackcoloredand

hardened(Fig.1).ACLwaspartiallytornbuttheposterior

cruci-ateligament(PCL)wasintact.Arthroscopicviewofthelateraljoint

http://dx.doi.org/10.1016/j.ijscr.2014.06.007

2210-2612/© 2014TheAuthors. Publishedby ElsevierLtd.on behalfof SurgicalAssociates Ltd.Thisis an openaccessarticle underthe CCBY-NC-ND license

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498 A.Karaetal./InternationalJournalofSurgeryCaseReports5(2014)497–499

Fig.1.Chondrallesiononmedialfemoralcondyle.

Fig.2. Arthroscopicvisionoftornlateralmeniscus.

spacerevealedalarge,yellowandblackcoloredgrade4chondral defectinthelateraltibialcondyle.Lateralmeniscuswasthickened, blackcoloredattheinferiorsurfaceandtorn(Fig.2).Thepartial

meniscectomywasperformed.Biopsywastakenfromtheblack

coloredareasoffemoralcondyle(Fig.3aandb).

Wehavedonefurtherinvestigationwiththesuspectof

ochrono-sis because of the black discoloration of tissues seen in the

arthroscopicintervention.Hip,knee,vertebraandshoulder

radio-graphs of the patient revealed osteoarthritis. The HGA level

wasdetectedhighin theurine. Urinewas normalin color but

whentreatedwithsodiumhydroxide(NaOH)coloroftheurine

becamedarker(Fig.4).Echocardiographyrevealedmoderatemitral

valveinsufficiencyandleftventriculardysfunction.Dermatologic,

urologic and ophthalmologic consultations did not reveal any

pathology. Histopathologic examination of arthroscopic biopsy

specimenswerereportedasochronosis.Thepatientisunderfollow

up by cardiology for valvular insufficiency and orthopedics for

ochronoticarthropathy.

3. Discussion

Ochronosis is a very rare disease with a prevalence of

1/250,000–1,000,000(1). Itwasfirst describedby Virchowin a

postmortemexaminationof a 67year-old patientin1866.It is

characterizedbydepositionofochronoticpigmentinthetissues

due tohomogentisicoxidaseenzymedeficiency inthetyrosine

metabolism. Clemens reported pigmentation of joint cartilage

in 1907. Ochronotic pigment can accumulate in hyaline

carti-lage,tendon,skin,teeth,nail,sclera,tympanicmembrane,heart

valves,renaltubularcells,duramater,pancreasandwallsofgreat

arteries.6,7 _{Ochronosis iseasilyrecognizedwithochronotic}

pig-mentationoftissues,degenerativearthropathy,especiallyinlarge

joints and darkdiscoloration of urine becauseof alcalinisation.

Therearefewcasesthatarereportedafterarthroscopicdiagnosis.

Ourcase istheseventhcase intheliterature.Allpatientsin

theliteraturewereexaminedwithkneearthroscopywith

differ-entreasonsand thediagnosisof ochronosisis madethrough a

furtherinvestigationof theintraarticulartissuesbecauseofthe

blackdiscoloration.2,4,8–11_{Asintheothercases,blackdiscoloration}

ofcartilageandmeniscaltissueswasdetectedinourcase.

More-over,wedetectedosteoarthritisandvacuumphenomenoninthe

intervertebraljoints,arthrosisof largejoints likehip,kneeand

glenohumeraljointsandincreasedhomogentisicoxidaseinurine.

Unlikeothercaseswedetectedthickeningofquadricepstendon

andasymptomaticsupraspinatustearintheMRIandmitralvalve

insufficiencyasanextraarticularfinding.

Increasinghomogentisicacid levelsin theblood and

result-ingaccumulationintissuesbecomesymptomaticespeciallyinthe

forthdecadealongwithdecreasingrenalfunctions.7_Black

discol-orationofnapkinsmayleadtodiagnosisintheneonatalperiod.

Historyofourcaserevealedblackcoloredurinationduring

child-hood.Howeverthepatientdidnotadmittoadoctor.

Inochronosisthemostfrequentlyinvolvedjointsarekneeand

hip.Inochronoticarthropathy,articularcartilagebecomesmore

sensitivetomechanicstressescausingfragmentationandresulting

innonspecifictenosynovitis.The50%ofthepatientspresentwith

kneeeffusion.7_{Ourpatientadmittedtoourclinicwithknee}

effu-sion.Highgradeglenohumeralarthropathyisveryrarebutmust

bekeptinmindinochronoticarthropathy.Ochronoticarthropathy

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A.Karaetal./InternationalJournalofSurgeryCaseReports5(2014)497–499 499

Fig.4.Thenormalcoloredurineofthepatientturnedintoblackaftertreatmentwithsodiumhydroxide.

differsfromosteoarthritisbypresentingwithlessosteophytesand subchondralcysts.12

Homogentisicacidpolyphenoloxidaseenzyme,whichislocated

especiallyintendonsandligaments,producesfreeradicalsthrough

oxidation and causes tendon and ligament ruptures.1,13 _MRI

of our patient revealed partial rupture of ACL, a thickened

quadriceps tendonand asymptomatic rupture of supraspinatus

tendon.

Ochronosismayaffectextraarticular tissues.Calcificationsin

coronary arteries, valvular insufficiencies must be checked by

echocardiography. Ultrasonography may show calcifications in

prostateandkidneys.7 _{Pigmentationsmaybedetectedinsclera,}

auricularand nasalcartilages.Wedetectedmitral valve

insuffi-ciencyinourcase.

There is no proven effective treatment of ochronosis. High

doseascorbicacid(100mg/kg)mayreduceHGAexcretioninthe

urinebutdoesnotpreventdevelopmentofarthropathy.5_Because

themodalities addressing thecauseof the diseaseare unclear,

treatmentofochronoticarthropathyissymptomatic.Nonsteroid

antiinflammatorydrugs and preparates containing glucosamine

andchondroitinsulphate,intraarticularhyaluronicacidandsteroid

injections, arthroscopic debridement and arthroplasty are the

treatmentoptions.2,5,14,15

4. Conclusion

Ochronosis is a rare disease affecting connective tissues.

Arthroscopyishelpfulindiagnosisofochronoticarthropathyand

mayleadtofurtherinvestigationandtreatmentofconcomitant

pathologies.

Conflictofinterest

Authorsdeclarethatthereisnoconflictofinterest.

Funding None.

Ethicalapproval

Writteninformedconsentwasobtainedfromthepatientfor

publicationofthiscasereportandcaseseriesandaccompanying

images.Acopyofthewrittenconsentisavailableforreviewbythe

Editor-in-Chiefofthisjournalonrequest.

Authorcontributions

AdnanKara:studyconceptordesign,datacollection,data

anal-ysisorinterpretation,writingthepaper.

HalukCelik:datacollection,writingthepaper.

AliSeker:writingthepaper.

HasanBasriSezer:writingthepaper.BekirErayKilinc:writing

thepaper.MetinUzun:writingthepaper.

Keylearningpoint

• Ochronosis is arare diseaseaffectingconnective tissues.

Arthroscopyishelpfulindiagnosisofochronotic

arthropa-thyandmayleadtofurtherinvestigationandtreatmentof

concomitantpathologies.

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