Myelodysplastic syndromes: Laporan Kasus

Abstract

Background: Myelodysplastic syndrome (MDS) is a group of bone marrow disorders characterized by ineffective hematopoiesis resulting in cytopenia and an increased risk of Acute Myeloid Leukemia (AML). MDS is a disease that is often found in elderly patients. The mean age at disease onset was 70 years. Case: A 72-year-old woman complained of feeling tired easily since 5 months throughout the day, not aggravated by activity and starting to gain weight in the last 1 week to interfere with the patient's activities. The patient also complained of intermittent dizziness since 2 months, was not affected by activity or change of position, and was not accompanied by nausea and vomiting. Complaints of fever, prolonged cough, bleeding, yellow body, red skin rash, progressive weight loss, bowel and bladder disorders were denied. Physical examination of the patient revealed vital signs within normal limits. The patient's conjunctiva was anemic, the patient's extremities also looked pale and there was no organ enlargement such as hepatomegaly and splenomegaly. Laboratory examinations at the time of presentation showed an increase in leukocytes, a decrease in erythrocytes, a decrease in hemoglobin, and a decrease in hematocrit. The patient's platelets were still in the normal range and there were no disturbances in kidney and liver function. The results of leukocytes, erythrocytes, and hemoglobin taken consecutively on 3 consecutive days still show an increase in leukocytes despite the downward trend in value. The results of bone marrow examination, namely trephine morphology, showed hypercellular marrow (approximately 80% cellularity) with an increase in blast cells of 10-15%, decreased maturation of myeloid series, erythroid cells and dyserythropoiesis, scattered plasma cells, increased megakaryocytes accompanied by dysmegakaryopoiesis. Patient diagnosed as Myelodysplastic Syndrome with Excess Blast. The therapy given to the patient during hospitalization aims to overcome the symptoms experienced by the patient. Transfusion of PRC (Packed Red Cell) 1 Kolf/day with Furosemide 20 mg by injection before transfusion and administration of Folic Acid 1 x 1 tablet per day provided an improvement in the patient's condition. This is evidenced by the increase in hemoglobin levels during treatment. The patient was referred to a referral hospital for further treatment. Conclusion: Myelodysplastic syndrome (MDS) is a group of bone marrow disorders characterized by ineffective hematopoiesis resulting in cytopenia and an increased risk of acute myeloid leukemia (AML). The patient was diagnosed with MDS with Excess Blast based on bone marrow biopsy. Other investigations, namely complete blood count, found an increase in leukocytes and hemoglobin, this also supports the diagnosis of MDS in this patient. The prognosis in this patient is classified as high risk based on IPSS-R, which means survival for 1-2 years is 13%. Latar Belakang: Myelodysplastic syndrome (MDS) adalah kelompok penyakit gangguan sumsum tulang ditandai dengan hematopoiesis yang tidak efektif mengakibatkan sitopenia dan peningkatan risiko terjadinya Leukemia Mieloid Akut (AML). MDS merupakan penyakit yang sering ditemukan pada pasien lanjut usia dengan rerata onset penyakit yaitu usia 70 tahun. Kasus: Perempuan berusia 72 tahun mengeluh mudah lelah sejak 5 bulan yang dirasakan sepanjang hari, tidak diperberat dengan aktivitas dan mulai bertambah berat 1 minggu terakhir hingga menganggu aktivitas pasien. Keluhan pusing yang hilang timbul sejak 2 bulan, tidak dipengaruhi oleh aktivitas atau perubahan posisi, dan tidak disertai dengan mual dan muntah. Keluhan demam, batuk lama, perdarahan, badan kuning, ruam merah dikulit, penurunan berat badan yang progresif, gangguan BAB dan BAK disangkal. Pasien didapatkan tanda vital dalam batas normal. Konjungtiva pasien anemis, ekstremitas pasien juga tampak pucat dan tidak didapatkan pembesaran organ seperti hepatomegaly dan splenomegaly. Hasil laboratorium diperoleh leukositosis, eritropenia, anemia, dan penurunan hematokrit. Platelet pasien masih berada pada rentang normal dan tidak terdapat gangguan pada fungsi ginjal dan hati. Hasil leukosit, eritrosit, dan hemoglobin yang diambil berturut-turut pada 3 hari berturut-turut tetap menunjukkan peningkatan leukosit meskipun tren nilai mengalami penurunan. Hasil pemeriksaan sumsum tulang yaitu gambaran morfologi trephine menunjukkan sumsum hiperseluler (kurang lebih 80% selularitas) dengan peningkatan sel blast 10 – 15 %, penurunan maturasi seri myeloid, sel eritroid dan diseritropoiesis, scattered sel plasma, peningkatan megakariosit disertai dismegakariopoiesis. Pasien diagnosa sebagai Myelodysplastic Syndrome with Excess Blast. Terapi yang diberikan pada pasien selama perawatan di rumah sakit bertujuan untuk mengatasi gejala yang dialami pasien. Transfusi PRC (Packed Red Cell) 1 Kolf/hari dengan pemberian Furosemide 20 mg secara injeksi sebelum transfusi dan pemberian Asam Folat 1 x 1 tablet per hari memberikan perbaikan kondisi pada pasien. Hal ini dibuktikan dengan peningkatan kadar hemoglobin selama perawatan. Pasien dirujuk ke rumah sakit rujukan untuk penanganan lebih lanjut. Simpulan: Myelodysplastic syndrome (MDS) adalah kelompok penyakit gangguan sumsum tulang ditandai dengan hematopoiesis yang tidak efektif mengakibatkan sitopenia dan peningkatan risiko terjadinya Leukemia Myeloid Akut (AML). Pasien didiagnosis mengalami MDS with Excess Blast berdasrakan pemeriksaan biopsis sumsum tulang. Prognosis pada pasien ini tergolong high risk berdasarkan IPSS-R yang artinya survival untuk 1 – 2 tahun yaitu 13%.