Pernahkah kamu mendengar sindrom ini? Ya, memang cukup langka ya. Mungkin anda belum pernah mendengarnya. Penyakit ini hanya diderita satu juta dari 7 miliar penduduk di dunia.
Apa itu Sindrom Bernard-Soulier?
Sindrom Bernard-Soulier ini merupakan penyakit dengan sekumpulan gejala akibat gangguan pada proses pembekuan darah. Kelainan ini ditandai dengan trombosit yang berukuran besar namun jumlahnya sedikit. Mungkin sekilas mirip dengan penyakit darah lainnya. Terutama kelainan darah yang melibatkan penurunan kadar trombosit.
Individu dengan sindrom ini biasanya cenderung mengalami perdarahan berlebih dan mudah memar. Karena trombosit tidak berperan sebagaimana mestinya. Sebagai informasi, trombosit merupakan keping darah yang bertugas untuk membekukan darah.
Apa penyebab sindrom ini?
Penyebab penyakit ini tidak dapat dijelaskan secara pasti. Namun, disimpulkan bahwa sebagian besar kasus Sindrom-Bernard-Soulier merupakan penyakit keturunan akibat pengaruh genetik. Pasien dengan sindrom ini memiliki glikoprotein (GP Ib/IX/V) yang rusak. Sebagian dari mereka malah tidak memiliki glikoprotein tersebut. Ini yang membedakan sindrom ini dengan kelainan darah lainnya.
Sindrom Bernard-Souler ini dapat diderita laki-laki maupun perempuan. Keduanya memiliki risiko yang sama. Sehingga ini menjadi salah satu tanda yang membedakan penyakit ini dengan penyakit hemofilia. Meski sama-sama memiliki gejala mudah memar dan perdarahan berlebih, tetapi hemofilia cenderung diderita laki-laki, sementara perempuan umumnya hanya sebatas carrier.
Bagaimana membedakan penyakit Sindrom Bernard-Soulier dengan kelainan darah lainnya?
Penyakit pada gangguan darah seperti Sindrom Bernard-Souler, hemofilia, von Willebrand disease, idiopathic thrombocytopenic purpura umumnya memiliki tanda dan gejala yang mirip. Untuk itu perlu dilakukan pemeriksaan darah untuk membedakannya. Terutama pemeriksaan penunjang untuk memeriksa glikoprotein GP Ib/IX/V.
Cara menangani kasus ini?
Penanganan kasus ini biasnaya sebatas simtomatis. Artinya pengobatan yang diberikan hanya ditujukan pada keluhan yang dialami saja. Pemberian trombosit dan agen pembeku darah sering diberikan pada penyandang kelainan ini manakala akan dilakukan prosedur gigi atau bedah atau pasca kecelakaan.
Selain itu, penyandang sindrom ini juga perlu menghindari obat-obat pengencer darah ataupun obat yang mempengaruhi pembekuan darah.
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