Myomatous Erythrocytosis Syndrome: Case Report and Review of the Literature

Abstract

Myomatous Erythrocytosis Syndrome is defined as erythrocytosis, myomatous uterus, and the return of normal hematologic values following surgical resection. The exact role of erythropoietin in disease pathogenesis is unknown. In this study we report the case of a 49 year old premenopausal woman who was found to have an enlarged heterogeneous mass arising from the uterus concerning for malignancy. Her RBC count was 5.75 T/L, hemoglobin was 17.6 g/dL and hematocrit was 54.3%. Pre-operative erythropoietin levels were 24.6 mIU/mL and JAK2 mutation was not detected. She underwent Total Abdominal Hysterectomy and Bilateral Salpingo-Oophorectomy. The pathology was consistent with a uterine leiomyoma. Laboratory evaluation performed eight weeks after surgery showed a RBC count of 4.5 T/L, hemoglobin of 13.6 g/dL, hematocrit of 40.5%. Post-operative erythropoietin level was 5.4 mIU/mL. The tissue showed diffuse moderate to strong cytoplasmic immunopositive for Erythropoietin. Erythropoietin plays an important role in this condition, however the exact mechanism is still under investigation. The theory of erythropoietin secreting tumor autonomously without negative feedback is the most credible so far. However, further studies with use of blood erythropoietin level, tissue erythropoietin detection using immune-stain and new molecular biology techniques need to be done and compared to uterine myoma patients with no erythrocytosis. Usually, no further treatment is required following surgical removal.

Myomatous erythrocytosis syndrome: A case report

“…Under rare conditions, secondary erythrocytosis can originate from benign tumors, such as uterine myoma[ 4 ], which is called myomatous erythrocytosis syndrome. As myoma may cause abnormal uterine bleeding, which leads to fluctuations in hemodynamics such as anemia, the actual occurrence of MES may be higher than reported[ 5 , 6 ].…”

Secondary Erythrocytosis Associated with Uterine Myoma Is Rare but Should Be of Concern

“…Emerging evidence shows that EPO is produced ectopically in uterine fibroid tissue in addition to the renal cortex, which can produce EPO and promote RBC production. Recently, Suresh and Rizk [9] discovered positivity of EPO immunohistochemistry in fibroid tissue, and the authors detected an increase in EPO level in blood serum, which returned to normal levels after removal of the mass. Moreover, Shu et al [10] found that EPO immunohistochemical staining was strongly positive in the myoma tissue, which may be the cause of erythrocytosis.…”

“…First, the presence of an arteriovenous shunt, intra-uterine myoma, and increasing deoxygenated blood flow may lead to an increase in the production of RBC [6]. However, this hypothesis was rejected because the arteriovenous fistula tends to affect the focal area rather than the whole hemodynamic system [3], and microscopic examination results of myoma in patients with or without MES were similar [9]. Another hypothesis is the compression theory, in which the diaphragm is compressed by a large myoma and leads to hypoxic conditions, or the renal parenchyma is affected by mass compression, which then causes an increase in EPO production [7].…”

“…Another hypothesis is the compression theory, in which the diaphragm is compressed by a large myoma and leads to hypoxic conditions, or the renal parenchyma is affected by mass compression, which then causes an increase in EPO production [7]. Evidence supports an increase in EPO levels in MES cases [5,9]. However, from the literature review of Mui et al [5], the presence of hydronephrosis was not different among MES cases, as well as clinical dyspnea or hypoxia was not always seen [2,10].…”