SPLENIC INFARCTS – WHEN THE CAUSE IS MULTIFACTORIAL: MTHF GENE MUTATION AND ESSENTIAL THROMBOCYTOSIS

Abstract

INTRODUCTION: Essential thrombocythemia (ET) is a rare chronic myeloproliferative disease associated with an increased risk of thrombotic events in up to 50% of all patients. In patients with hyperhomocysteinemia associated with MTHFR mutation in homozigozity, the risk for thrombotic events is increased in 1-2%. Therefore, the coexistence of these two clinical entities causes an exponential rise in the risk for ischemic phenomena. CASE REPORT: A 56-year-old male, a smoker with previously known dyslipidemia and cerebrovascular disease was admitted to our hospital for epigastric and left hypochondrium pain for two months. Imagiological studies showed splenomegaly and several lesions suggestive of splenic infarction. Laboratory studies revealed leukocytosis (12900/μL), thrombocythemia (570x103/μL), reduced folic acid levels (0.90 ng/mL) and hyperhomocysteinemia (42.5 μmol/L). MTHFR c.677C>T mutation was positive (homozygous). His bone marrow showed characteristics suggestive of ET and JAK2 V612F was positive (heterozygous) with bcr-abl mutation negative. Aspirine and hydroxyurea were started as well as vitaminic supplementation, with good response. DISCUSSION: The present case reflects the association between two unusual clinical entities, in which thrombotic phenomena are very common, particularly in the vascular territorries involved in this patient. We highlight the importance of a quick diagnosis and treatment, the main keys for a survival rate similar to the general population.