Erythrocytosis Complicated by Multiple Paraganglioma

Abstract

We report the case of a 22-year-old woman with onset of erythrocytosis at the age of 9 years. Endocrinological and radiological examinations revealed an elevated catecholamine level and the presence of multiple abdominal tumors. After the removal of the tumors, the catecholamine level normalized, whereas erythropoietin remained at the same level and erythrocytosis persisted. The tumor lysate contained considerable amounts of catecholamine but no erythropoietin. Moreover, no erythropoietin mRNA was detected in the tumor by in situ hybridization. These data suggest that this paraganglioma did not produce erythropoietin. A review of the literature showed the existence of patients with early-onset erythrocytosis complicated with paraganglioma, whose erythrocytosis was not relieved even after the resection of paraganglioma.

Triple-way therapeutic approach for paraganglioma-dependent erythrocytosis: drugs and surgery plus “multi-manner” apheresis

“…In agreement with this conclusion, elevated serum EPO level, with consequent erythrocytosis, was observed after paraganglioma clinical relapse. On the contrary, some literature data did not prove the improvement of erythrocytosis after tumor removal [6,17,18], suggesting EPO secretion from some other sources. Described linear correlation of serum EPO level with course of the disease could be accepted as an indirect confirmation of ectopical paraganglioma-dependent EPO secretion.…”

“…Nearly 15-35% of abdominal paragangliomas are malignant [9,10]. The hereditary forms of the disease, which constitute approximately 10% of cases, are usually benign [1,6]. Clinical and histopathological distinction between benign and malignant paragangliomas is difficult, and reliable diagnostic and prognostic markers are lacking [3].…”

“…Phlebotomy, as a therapeutic procedure, resulted in post-treatment serum EPO escalation by three-to six-fold [16] in contrast to ''multimanner'' apheresis with consecutive EPO decrement, one of the main advantages of this procedure. A literature review has shown the existence of patients with early-onset erythrocytosis complicated with paraganglioma, whose erythrocytosis was not relieved even after the tumors resection [6]. In the previous literature data, a multiple retroperitoneal functioning paraganglioma complicated by polyglobulia was reported in the case of a girl who, at the age of 13, complained of headache, palpitations, and faintness, preoperatively.…”

“…However, although even the serum EPO level kept within the normal range after the tumor surgical removal, erythrocytosis still persisted [17,18]. Conditions such as renal cell carcinoma, hepatocellular carcinoma, rarely cerebellar hemangioblastoma, uterine fibromyoma, hypoxic lung disease, and cyanotic congenital heart diseases can be the cause of erythrocytosis, following hemorheological irregularity [6,19]. In addition, CHVS could be associated with cystic kidneys, renal artery stenosis, or renal transplantation [15,[20][21][22].…”

“…Despite serum EPO decrease, erythrocytosis is still persistent in some patients [6]. CHVS correction has been achieved by phlebotomy or therapeutic erythrocytapheresis (TE) [7][8][9][10].…”