I-Marfan syndrome yisifo sofuzo esithinta cishe umuntu oyedwa kwabangu-1 emhlabeni wonke. Ithinta izicubu ezixhumeneyo eziqinisekisa ukubumbana kwento ephilayo futhi ingenelele ekukhuleni komzimba. Izingxenye eziningi zomzimba zingathinteka: inhliziyo, amathambo, amalunga, amaphaphu, isimiso sezinzwa namehlo. Ukulawulwa kwezimpawu manje kunikeza abantu isikhathi sokuphila esicishe silingane nesabo bonke abanye abantu.

Izimpawu ze-Marfan syndrome ziyehluka kakhulu kumuntu nomuntu futhi zingavela kunoma ibuphi ubudala. Ziyi-cardiovascular, musculoskeletal, ophthalmological and pulmonary.

Ukubandakanyeka kwenhliziyo nemithambo yegazi kuvame ukubonakala ngokunwebeka okuqhubekayo kwe-aorta, okudinga ukuhlinzwa.

Okubizwa ngokuthi ukulimala kwe-musculoskeletal kuthinta amathambo, imisipha kanye nemigqa. Banikeza abantu abane-Marfan syndrome ukubukeka okuphawulekayo: bade futhi bazacile, banobuso obude neminwe emide, futhi banokukhubazeka komgogodla (i-scoliosis) nesifuba.

Ukulimala kwamehlo njenge-lens ectopia kuvamile futhi izinkinga zingaholela ebumpumputhe.

Ezinye izimpawu zenzeka kancane kancane: ukuqubuka kanye nama-stretch marks, i-pneumothorax, i-ectasia (ukunwetshwa kwengxenye engezansi yemvilophu evikela umgogodla), njll.

Lezi zimpawu ziyefana nezinye izifo zezicubu ezixhumeneyo, okwenza i-Marfan syndrome ngezinye izikhathi kube nzima ukuyixilonga.

I-Marfan syndrome ibangelwa ukuguqulwa kofuzo lwe-FBN1 olufaka amakhodi okwakhiwa kweprotein fibrillin-1. Lokhu kudlala indima enkulu ekukhiqizeni izicubu ezixhumeneyo emzimbeni. Ukuguqulwa kofuzo lwe-FBN1 kunganciphisa inani le-fibrillin-1 esebenzayo etholakalayo ukuze kwakhe imicu enikeza amandla nokuvumelana nezimo kuzicubu ezixhumeneyo.

Ukuguqulwa kofuzo lwe-FBN1 (15q21) kuhileleke ezimweni eziningi, kodwa ezinye izinhlobo ze-Marfan syndrome zibangelwa ukuguqulwa kofuzo lwe-TGFBR2. (1)

Abantu abanomlando womndeni basengozini enkulu ye-Marfan syndrome. Lesi sifo sithathelwana sisuka kubazali siye ezinganeni ” i-autosomal dominant “. Zimbili izinto ezilandelayo:

• Kwanele ukuthi omunye wabazali ungumthwali wengane yakhe ukuze akwazi ukuyithola;
• Umuntu othintekile, owesilisa noma owesifazane, unengozi engu-50% yokudlulisela uguquko olubangela lesi sifo enzalweni yakhe.

Ukuxilongwa kofuzo ngaphambi kokubeletha kungenzeka.

Kodwa-ke, akufanele kunganakwa ukuthi i-syndrome ngezinye izikhathi ibangelwa ukuguqulwa okusha kofuzo lwe-FBN1: ku-20% wamacala ngokusho kwe-Marfan National Reference Centre (2) futhi cishe oku-1 kwezingu-4 ngokusho kweminye imithombo. Ngakho-ke umuntu othintekile akanawo umlando womndeni.

Kuze kube manje, asazi ukuthi selashwa kanjani i-Marfan syndrome. Kodwa kuye kwenziwa inqubekelaphambili enkulu ekuhlonzweni kwayo nasekwelashweni kwezimpawu ezihambisanayo. Kangangoba iziguli zinesikhathi sokuphila esicishe silingane nesomphakathi jikelele kanye nezinga lempilo elihle. (2)

Ukuvuleka kwe-aorta (noma i-aortic aneurysm) kuyinkinga yenhliziyo evame kakhulu futhi kubeka ingozi enkulu kakhulu esigulini. Kudinga ukuthathwa kwezidakamizwa ezivimba i-beta ukuze kulawuleke ukushaya kwenhliziyo futhi kudambise ukucindezelwa komthambo wegazi, kanye nokulandelwa okuqinile kwama-echocardiograms onyaka. Kungase kudingeke ukuhlinzwa ukuze kulungiswe noma kushintshwe ingxenye ye-aorta eye yanwetshwa kakhulu ngaphambi kokuba idabuke.

Ukuhlinzwa kungase futhi kulungise okuthile okungavamile kokuthuthukiswa kwamehlo nohlaka lwamathambo, njengokuqiniswa komgogodla ku-scoliosis.