REHABILITASI MEDIK PADA SINDROM EHLERS-DANLOS

Abstract

Abstract: Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that manifests as hypermobility joint, hyperextensibility of the skin, and tissue fragility. There are 6 variants of this syndrome as follows: hypermobility, classic, vascular, kyphoscoliosis, athroclasia, and dermatosparaxis. The clinical manifestation of Ehlers-Danlos syndrome is often related to joint and skin. However, it rarely manifests as fragility or rupture of artery, scoliosis, and mitral valve disorder. The diagnosis of Ehlers-Danlos syndrome is based on clinical findings, family history with this syndrome, and additional tests inter alia DNA test. The management of Ehlers-Danlos syndrome could be medication, surgery, and rehabilitation. This rehabilitation is focused on increasing the joint stability, prohibiting for excessive burden to weight bearing joints, and using modified device to support activites of daily living without worsening the symptoms as well as supporting the psychological and medical social aspects of the patient.

Keywords: Ehlers-Danlos syndrome, joint hypermobility, comprehensive rehabilitation

Abstrak: Sindrom Ehlers-Danlos (SED) adalah sekelompok gangguan pada jaringan penyambung yang bersifat diturunkan dan bermanifestasi sebagai hipermobilitas sendi, hiperekstensibilitas kulit, dan kerapuhan jaringan. Terdapat 6 jenis SED yaitu: hipermobilitas, klasik, vaskuler, kifoskoliosis, artrokalasia, dan dermatosparaksis. Manifestasi klinis SED sering berkaitan dengan sendi dan kulit. Manifestasi lain yang lebih jarang ditemukan antara lain kerapuhan atau ruptur pembuluh darah arteri, skoliosis, serta gangguan katup mitral. Diagnosis SED ditegakkan berdasarkan penemuan klinis, riwayat keluarga dengan SED, serta pemeriksaan penunjang antara lain tes DNA. Penanganan SED terdiri dari medikasi, operasi, dan rehabilitasi. Penanganan rehabilitasi difokuskan pada peningkatan stabilitas sendi, pencegahan beban berlebih pada sendi yang weight bearing, serta penggunaan modifikasi alat untuk membantu aktifitas sehari-hari tanpa memperberat gejala. Selain itu, rehabilitasi medik juga berperan penting terhadap aspek psikologik maupun sosial medik pasien SED.

Kata kunci: sindroma Ehlers-Danlos, hipermobilitas sendi, rehabilitasi komprehensif