College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Department of Radiology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Am J Case Rep. 2023 May 10;24:e938676. doi: 10.12659/AJCR.938676.
BACKGROUND Erythrocytosis results from primary or secondary causes and is characterized by an increased red blood cell count. Secondary erythrocytosis is a result of an underlying cause outside the bone marrow and is often mediated by erythropoietin. Paragangliomas are rare tumors characterized by increased release of catecholamines with symptoms such as hypertension, hematuria, headache, sweating, and post-micturition syncope. Polycythemia-paraganglioma syndrome (PPS) is exceedingly rare, and reports in the literature are limited. CASE REPORT A 14-year-old female patient presented to our clinic with sweating, palpitations, and palmar erythema. The patient's history was significant for uninvestigated hypertension diagnosed at the age of 9. There was no history of smoking or illicit drug use. Blood investigations revealed an elevated hemoglobin level of 18.5 g/dL and a hematocrit of 57.5%. Whole-genome sequencing found no mutations, excluding polycythemia vera from the differential diagnosis. Computed tomography (CT) revealed 2 lesions compatible with urinary bladder paragangliomas and retroperitoneal lesions, likely representing metastatic lymphadenopathy. Whole-body gallium-68 DOTATATE PET/CT scan demonstrated significant tracer uptake within the necrotic retroperitoneal lymph nodes. However, evaluation of the bladder lesion was limited due to physiological urinary excretion of the tracer. A 24-hour urine collection demonstrated high normetanephrine levels of 24 µmol/L. These findings confirmed the diagnosis of PPS. CONCLUSIONS PPS is largely associated with HIF2A mutations. This article describes the case of a young PPS patient and highlights the importance of considering neoplasms in the differential diagnosis of hypertension in young patients. Further, it is crucial to conduct clinical investigations on young hypertensive patients to exclude underlying causes such as renal diseases, coarctation of the aorta, and neuroendocrine disorders.
红细胞增多症由原发性或继发性原因引起，其特征是红细胞计数增加。继发性红细胞增多症是骨髓以外潜在原因引起的，通常由促红细胞生成素介导。副神经节瘤是一种罕见的肿瘤，其特征是儿茶酚胺释放增加，症状包括高血压、血尿、头痛、出汗和排尿后晕厥。多发性内分泌肿瘤-副神经节瘤综合征（PPS）极为罕见，文献报道有限。
一名 14 岁女性患者因出汗、心悸和手掌红斑就诊于我院。患者的病史包括 9 岁时未经检查的高血压。无吸烟或使用非法药物史。血液检查显示血红蛋白水平升高至 18.5g/dL，血细胞比容为 57.5%。全基因组测序未发现突变，排除了真性红细胞增多症的鉴别诊断。计算机断层扫描（CT）显示 2 个符合膀胱副神经节瘤和腹膜后病变的病变，可能代表转移性淋巴结病。全身镓-68 DOTATATE PET/CT 扫描显示坏死性腹膜后淋巴结有明显的示踪剂摄取。然而，由于示踪剂的生理性尿液排泄，膀胱病变的评估受到限制。24 小时尿液采集显示高儿茶酚胺水平为 24µmol/L。这些发现证实了 PPS 的诊断。
PPS 主要与 HIF2A 突变相关。本文描述了一例年轻的 PPS 患者病例，并强调了在年轻患者的高血压鉴别诊断中考虑肿瘤的重要性。此外，对年轻高血压患者进行临床检查以排除潜在原因，如肾脏疾病、主动脉缩窄和神经内分泌疾病非常重要。
