Polisitemia vera; aspek klinis dan tatalaksana terbaru
Abstract
Abstrak. Polisitemia Vera (PV) adalah gangguan kronis klonal mieloproliperatif yang ditandai dengan peningkatan hebat dalam jumlah sel darah merah dan volume darah total, dan biasanya disertai dengan leukositosis, trombositosis dan splenomegali. Pada PV terjadi defek primer pada ekson 14 tirosin kinase JAK2 yang menyebabkan hilangnya domain pseudo kinase auto-inhibitor JAK2 serta hipersensitivitas terhadap pembentukan koloni eritroid EPO dan EPO independen. Gejala umum yang muncul biasanya tidak spesifik seperti kelelahan, sakit kepala, pusing, penglihatan kabur sementara, amaurosis fugax dan gejala lain yang menunjukkan serangan transient ischemic. Kriteria diagnostik dari World Health Organization (WHO) yang diperbarui memperkenalkan beberapa perubahan signifikan dengan kriteria sebelumnya yakni menurunkan ambang batas kadar hemoglobin dan cut-off nilai hematokrit, peningkatan fitur histopatologis dan karakterisasi mutasi. Tatalaksana PV meliputi plebotomi untuk mengurangi hematokrit, pemberian obat hydroxyurea, serta antitrombotik, diberikan sesuai dengan stratifikasi risiko. Mitigasi risiko trombosis dan plebotomi penting dilakukan dan juga dapat dilakukan pada fasilitas kesehatan yang ada di Indonesia saat ini. Hal ini penting untuk mencegah terjadinya komplikasi yang akan meningkatkan morbiditas dan mortalitas pasien PV.
Kata kunci: polisitemia vera, janus kinase 2, plebotomi
Abstracts. Polycythemia Vera (PV) is a chronic myeloproliferative clonal disorder characterized by severe increase in red blood cell count and total blood volume, and is usually accompanied by leukocytosis, thrombocytosis and splenomegaly. There is a primary defect in exon 14 tyrosine kinase JAK2 which causes the loss of the JAK2 auto-inhibitor pseudo kinase domain and hypersensitivity to the formation of EPO and EPO erythroid colonies. General symptoms that appear in PV patients are usually not specific such as fatigue, headache, dizziness, temporary blurred vision, amaurosis fugax and other symptoms that indicate transient ischemic attacks. The updated diagnostic criteria from the World Health Organization (WHO) introduce some significant changes to the previous criteria, namely lowering the hemoglobin level threshold and hematocrit cut-off, increasing histopathological features and mutation characterization. PV management includes phlebotomy to reduce hematocrit, administration of hydroxyurea drugs, and antithrombotic, which are given according to risk stratification. Mitigation of the risk of thrombosis and phlebotomy is important and can also be done at existing health facilities in Indonesia. This is important to prevent complications that will increase the morbidity and mortality of PV patients.
Keywords: Polycythemia Vera, Janus kinase 2, phlebotomy
Keywords
References
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DOI: 10.24815/jks.v20i2.18507
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