Ehlers-Danlos faʻamaʻi

Ehlers-Danlos syndrome (EDS) o se vaega o faʻamaʻi tuufaʻailogaina ua iloga mai i soʻoga soʻoga, soʻoga (hyperelastic) paʻu e gagagofie faigofie, ma faigofie ona faʻaleagaina alatoto.

E i ai ituaiga tetele e ono ma le itiiti ifo ma le lima ituaiga laiti o EDS.

Eseesega o ituaiga (suiga) e tupu ai faʻafitauli ile collagen. Ole mea lea e maua ai le malosi ma le fausaga e:

• Paʻu
• Ivi
• Vaʻa toto
• Totoga i totonu

O le collagen le masani ai e mafua ai faʻailoga e fesoʻotaʻi ma EDS. I nisi ituaiga o le faʻamaʻi, e mafai ona tupu le gagauina o totoga i totonu poʻo ni afu masani o le fatu.

Talafaʻasolopito o aiga o se tulaga lamatia i nisi tulaga.

Faʻailoga o le EDS aofia ai:

• Paʻu tua
• Faʻatasiga faʻalua
• Faigofie paʻu, gagau, ma paʻu le paʻu
• Faigofie maʻila ma le lelei faʻamalologa manuʻa
• Vae mafolafola
• Faʻateleina le fealuaʻi o soʻoga, soʻoga oso, vave gugu
• Faʻamavaega soʻofaʻatasi
• Tiga soʻoga
• Lafoaia vave o membrane i le taimi o to
• Paʻu malu ma velovetave le paʻu
• Faʻafitauli vaʻai

Suʻega e se tausi soifua maloloina ono faʻaalia:

• Luga o le mata (faʻalava)
• Ova soʻoga soʻosoʻo ma soʻoga hypermobility
• Mitral alatoto i le fatu e le tapunia fufusi (mitral alatoto prolaps)
• Pulu pipisi (periodontitis)
• Faʻamamaina o gaʻo, ute, poʻo le eyeball (vaʻaia naʻo le vaskia EDS, e seasea lava)
• Paʻu vaivai, manifinifi, pe paee foi

Suʻega e faʻamaonia ai le EDS aofia ai:

• Koleti taina (faʻatinoina luga o le paʻu biopsy faʻataʻitaʻiga)
• Collagen gafa mutation suʻega
• Echocardiogram (fatu ultrasound)
• Lysyl hydroxylase poʻo oxidase gaioiga (e siaki collagen faʻavae)

E leai se faʻapitoa togafitiga mo EDS. O tagata lava ia faʻafitauli ma faʻailoga e iloiloina ma vaʻaia lelei. Togafitiga o le tino poʻo se iloiloga e se fomaʻi faʻapitoa i le toe faʻaleleia vailaʻau e masani ona manaʻomia.

O nei fesoasoani e mafai ona maua ai nisi faʻamatalaga i luga o le EDS:

• National Organization of Rare Disorder - rarediseases.org/rare-diseases/ehlers-danlos-syndrome
• US National Library of Medicine, Genetics Home Reference - ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Tagata e iai le EDS e masani ona iai le umi ole olaga. Malamalama e masani.

O i latou e seasea mauaʻa ituaiga o le EDS e sili atu le lamatiaga mo le gagauina o se vaega tele poʻo le toto vaʻa. O nei tagata ua i ai se tulaga maualuga lamatiaga mo le oti faafuaseʻi.

Faʻafitauli faigata o le EDS aofia ai:

• Paʻu soʻoga soʻoga
• Galue vave le gugu
• Le manuia o taotoga manuʻa e tapuni (pe suʻi fafo loimata)
• Lafoaia vave o membrane i le taimi o to
• Faʻamamaina o vaʻa tetele, e aofia ai ma le malepe o le aneurysm aortic (naʻo le vascular EDS)
• Faʻamamaina o se gaogao totoga e pei o le faʻaʻautagata poʻo le manava (naʻo i vascular EDS)
• Tape o le mata mata

Valaʻau mo se taimi atofaina ma lau tautua peʻa iai sau talaʻaga aiga o EDS ma o loʻo e popole i lou aʻafiaga pe o loʻo e fuafuaina e amata se aiga.

Valaʻau mo sau feiloaʻiga ma lau tautua pe a fai o oe poʻo lau tama e maua i faʻailoga o le EDS.

O fautuaga tuʻufaʻasolopito e fautuaina mo matua sauniuni ma se talafaʻasolopito o aiga o EDS. O i latou o loʻo fuafuaina e amata se aiga e tatau ona nofouta i le ituaiga o EDS o loʻo ia latou ma lana auala e faʻafefea ona tuʻufaʻatasia ai i tamaiti. Lenei e mafai ona fuafuaina e ala i suʻega ma iloiloga fautuaina e lau tautua poʻo le kenera fesoasoani.

O le faʻailoaina o ni tulaga faigata o le soifua maloloina e ono fesoasoani e puipuia faʻafitauli faigata i le mataala ma le suia o le olaga.

Krakow D. Faʻamaʻi afaina o mea fesoʻotaʻi. I totonu: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, eds. Kelly ma Firestein's Tusitusiga o Rheumatology. 10 ed. Filatelefia, PA: Elsevier; 2017: mata 105.

Pyeritz RE. Mauaina faamaʻi o fesoʻotaʻiga aano. I totonu: Goldman L, Schafer AI, eds. Faʻafomaʻi Goldman-Cecil. 25th lomiga. Filatelefaia, PA: Elsevier Saunders; 2016: mata 260