NIV Congres

Introduction: Polycythemia is a common disorder and can be divided in a primary form, known as polycythemia vera, and a secondary form which is characterized by an increase in erythropoietin production. Cardiac and pulmonary conditions presenting with hypoxia and hereby elevated erythropoietin levels are well known for inducing secondary polycythemia. A less common known cause is a fibroid or leiomyoma, as is illustrated in this case.

Case report: A 50-year old woman was seen in the outpatient clinic with headache and fatigue, existing for several years. Recently she developed erythromelalgia, which responded well to acetylsalicylic acid, prescribed by her general practitioner. Further history revealed increasing generalized pruritus, but otherwise no abnormalities. Besides the acetylsalicylic acid she used oral contraceptives, with which she had a regular menses without breakthrough bleeding. She did not smoke and rarely used alcohol. On physical examination a plethoric face was noticed and her blood pressure was 200/120 mmHg. An abdominal mass was palpable in the lower abdomen up to the liver and at pelvic examination a fixed uterine mass was identified. Laboratory results showed increased hemoglobin (13.4 mmol/L) and hematocrite (0.62 l/l), erythrocytosis and normal levels of platelets and leukocytes. These findings made a primary polycythemia likely and phlebotomy was started. However, on further investigation her erythropoietin level was moderately elevated and the JAK2V617F mutation was negative. For evaluation of the abdominal mass a computer tomography was performed that showed a large uterine mass containing multiple hypodense lesions, most consistent with a uterine fibroid, but a potential leiomyosarcoma could not be ruled out. The patient underwent an abdominal hysterectomy with bilateral salpingo-oophorectomy, the pathology report revealed multiple benign leiomyomata. After surgery her hemoglobin and hematocrite were restored to normal values and her erythropoietin level dropped to subnormal. A few months later she was still asymptomatic with normal blood results.

Discussion: Over the last decades case reports show that secondary polycythemia can be caused by large uterine fibroids. When the hematological abnormalities vanish after hysterectomy it is classified as the myomatous erythrocytosis syndrome. The etiology is still not clear, over the years several explanations have been given and at this moment the most favored is ectopic production of erythropoietin by the leiomyoma. This explanation might also be compatible in this case considering the rapid decline of the erythropoietin level.

Conclusion: This case illustrates that presence of uterine fibroids must be taken in account when facing a woman with erythrocytosis.