Gameiro Antón Fr, Robalo Nunes António, Guerra Paula, Mateus Estela, Fernandes Fátima
Hospital do SAMS, Lisbon, Portugal.
Eur J Case Rep Intern Med. 2020 Nov 2;7(12):002003. doi: 10.12890/2020_002003. eCollection 2020.
Portal vein thrombosis (PVT) is an uncommon finding in patients without cirrhosis. The underlying x\aetiology is challenging and the condition has a wide differential diagnosis. We present a case of PVT in an anaemic patient with chronic iron and folic acid deficiency masking underlying polycythemia vera (PV). Only a careful review of the patient's clinical history allowed the identification of a short period of laboratory erythrocytosis, 6 months before the clinical onset of PVT, while the patient was on iron and folic acid supplementation. The finding raised clinical suspicion of PV previously masked by iron deficiency anaemia. Subsequent investigation confirmed the presence of the V617F mutation and, ultimately, showed that the patient met all diagnostic criteria for PV. Myeloproliferative disorders (MPD) are associated with systemic prothrombotic states. PV is distinguished clinically from other MPD by the presence of increased red blood cell mass. Moreover, patients with abnormal haematocrit values in the pre- V617F era may have had occult or latent PV. Diagnosis confirmation requires a combination of major and minor criteria to capture occasional cases of occult PV. This case emphasizes the importance of always considering MPD in the aetiological investigation of PVT, even in patients who apparently do not fulfil the diagnostic criteria.
We describe a rare gastroenterological presentation of a haematological condition, which provided an unexpected diagnosis.Myeloproliferative disorders should always be considered in the investigation of portal vein thrombosis.
门静脉血栓形成（PVT）在无肝硬化患者中并不常见。其潜在病因具有挑战性，且该病症有广泛的鉴别诊断。我们报告一例PVT病例，患者为贫血，伴有慢性铁和叶酸缺乏，掩盖了潜在的真性红细胞增多症（PV）。只有仔细回顾患者的临床病史，才发现患者在PVT临床发病前6个月，即在补充铁和叶酸时，有一段实验室红细胞增多期。这一发现引发了对先前被缺铁性贫血掩盖的PV的临床怀疑。随后的检查证实了V617F突变的存在，最终表明该患者符合PV的所有诊断标准。骨髓增殖性疾病（MPD）与全身性血栓前状态有关。PV在临床上与其他MPD的区别在于红细胞增多。此外，在V617F出现之前，血细胞比容值异常的患者可能患有隐匿性或潜伏性PV。诊断确认需要主要和次要标准相结合，以发现偶尔的隐匿性PV病例。该病例强调了在PVT病因调查中始终考虑MPD的重要性，即使在明显不符合诊断标准的患者中也是如此。
我们描述了一种血液系统疾病罕见的胃肠病学表现，从而得出了意外的诊断结果。在门静脉血栓形成的调查中应始终考虑骨髓增殖性疾病。
