Isifo se-Ehlers-Danlos

I-Ehlers-Danlos syndrome (i-EDS) liqela leziphazamiso ezizuzwe njengelifa eziphawulwe ngamalungu adibeneyo, ulusu ololule kakhulu (hyperelastic) ulusu olugruzuke ngokulula, nolonakalisa imithambo yegazi ngokulula.

Kukho iintlobo ezintandathu eziphambili kwaye ubuncinci ezintlanu iintlobo ze-EDS.

Iinguqu ezahlukeneyo zohlobo (ukuguquka) kubangela iingxaki nge-collagen. Esi sisixhobo esibonelela ngamandla kunye nolwakhiwo ku:

• Ulusu
• Ithambo
• Ivazi yegazi
• Amalungu angaphakathi

I-collagen engaqhelekanga ikhokelela kwiimpawu ezinxulumene ne-EDS. Kwezinye iindlela zesifo, ukuvela kwamalungu angaphakathi okanye iivevyu zentliziyo ezingaqhelekanga zinokwenzeka.

Imbali yosapho iyinto enobungozi kwezinye iimeko.

Iimpawu ze-EDS zibandakanya:

• Umqolo obuhlungu
• Ukudityaniswa kabini
• Yonakaliswe lula, ityumkile, kwaye yolula ulusu
• Ukulula okulula kunye nokupholisa amanxeba
• Iinyawo ezisicaba
• Ukonyuka kokuhamba ngokudibeneyo, amalungu ayavela, isifo samathambo kwangoko
• Ukwahlula ngokudibeneyo
• Intlungu edibeneyo
• Ukuqhekeka kwangaphambili kweembumba ngexesha lokukhulelwa
• Uthambile kwaye ulusu velvety
• Iingxaki zombono

Uviwo ngumboneleli wezempilo lunokubonisa:

• Umhlaba oguqulweyo wamehlo (i-cornea)
• Ukukhululeka ngokudibeneyo ngokudibeneyo kunye nokudityaniswa kokuqina
• I-Mitral valve kwintliziyo ayivali ngokuqinileyo (mitral valve prolapse)
• Usulelo lweentsini (periodontitis)
• Ukuqhekeka kwamathumbu, isibeleko, okanye iliso (kubonwe kuphela kwi-vascular EDS, enqabileyo)
• Uthambile, ubhityile, okanye ulusu ololule kakhulu

Uvavanyo lokufumanisa i-EDS lubandakanya:

• Ukuchwetheza kwe-Collagen (kwenziwa kwisampulu yesikhumba se-biopsy)
• Ukuvavanywa kokuvavanywa kohlobo lweCollagen
• I-Echocardiogram (intliziyo ye-ultrasound)
• ILysyl hydroxylase okanye imisebenzi ye-oxidase (ukujonga ukwenziwa kwe-collagen)

Akukho lonyango luthile lwe-EDS. Iingxaki kunye neempawu ezizodwa ziyavavanywa kwaye zikhathalelwe ngokufanelekileyo. Ukunyanga ngokwasemzimbeni okanye ukuvavanywa ngugqirha ogxile kunyango lokubuyisela kwimeko yesiqhelo kudla ngokufuneka.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya kwi-EDS:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/ehlers-danlos-syndrome
• Ilayibrari yeSizwe yaseMelika yoNyango, Isalathiso seKhaya laseGenetics - ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Abantu abane-EDS ngokubanzi banobomi obuqhelekileyo. Ubukrelekrele buqhelekile.

Abo banohlobo olunqabileyo lwe-vascular ye-EDS basemngciphekweni omkhulu wokuqhekeka kwelungu elikhulu okanye isitya segazi. Aba bantu banomngcipheko ophezulu wokufa ngesiquphe.

Iingxaki ezinokubakho ze-EDS zibandakanya:

• Iintlungu ezingapheliyo ezidibeneyo
• Ukuqala kwamathambo
• Ukusilela kwamanxeba otyando ukuvala (okanye ukuthunga kukhuphe)
• Ukuqhekeka kwangaphambili kweembumba ngexesha lokukhulelwa
• Ukuqhekeka kweenqanawa ezinkulu, kubandakanya ne-aortic aneurysm (kuphela kwi-vascular EDS)
• Ukuqhekeka kwento engenanto efana nesibeleko okanye isilonda (kuphela kwi-vascular EDS)
• Ukuqhekeka kwamehlo

Biza ukuqeshwa kunye nomboneleli wakho ukuba unembali yosapho ye-EDS kwaye ukhathazekile ngomngcipheko wakho okanye uceba ukuqala usapho.

Biza ukuqeshwa kunye nomboneleli wakho ukuba wena okanye umntwana wakho uneempawu ze-EDS.

Ukucebisa ngemfuza kuyacetyiswa kwabo banokuba ngabazali abanembali yosapho ye-EDS. Abo baceba ukuqala usapho kufuneka babenolwazi ngohlobo lwe-EDS abanayo kunye nendlela yayo edluliselwa ngayo ebantwaneni. Oku kunokugqitywa kuvavanyo nakuvavanyo olucetyiswe ngumboneleli wakho okanye ngumcebisi ngemfuzo.

Ukuchonga nayiphi na imingcipheko ebalulekileyo yezempilo kunokunceda ukuthintela iingxaki ezinzima ngokujonga ngononophelo kunye nokutshintsha kwendlela yokuphila.

I-Krakow D. Izifo ezinokungahambelani nezihlunu ezinxibelelanayo. Ku: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, ii-eds. Incwadi kaKelly noFirestein yeRheumatology. Ngomhla we-10. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 105.

UPyeritz RE. Izifo ezizuze njengelifa zezihlunu ezinxibelelanayo. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Umhla wama-25. IPhiladelphia, PA: Elsevier Saunders; Ngo-2016: isahluko 260.