Department of Endocrinology, Diabetes and Metabolism Cleveland Clinic, 9500 Euclid Avenue, F20, Cleveland, OH, 44195, USA.
Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
J Med Case Rep. 2023 Apr 7;17(1):124. doi: 10.1186/s13256-023-03871-8.
The new presentation of pheochromocytoma or paraganglioma in pregnancy is very rare and can be life-threatening for mother and child.
We present the case of a 26-year-old gravida 3 para 2 otherwise healthy Caucasian woman at 34 weeks gestation who presented with new onset hypertension associated with headaches, dry heaves, diaphoresis, and palpitations. She was initially diagnosed with preeclampsia and treated with labetalol and an urgent cesarean section, delivering a healthy baby girl. The diagnosis of preeclampsia came into question when, 6 weeks postpartum, she continued to have hypertension with atypical features. Testing revealed metastatic paraganglioma associated with a succinate dehydrogenase B gene mutation. The patient was then started on alpha-adrenergic blockade and has had close blood pressure monitoring while discussion of advances therapies is ongoing.
This case demonstrates how paraganglioma/pheochromocytoma can be misdiagnosed as preeclampsia due to the overlapping features of new-onset hypertension late in pregnancy accompanied by headache and proteinuria. It is impractical to routinely screen for paraganglioma/pheochromocytoma in all pregnant patients diagnosed with preeclampsia due to the rarity of these tumors and the harm from high false-positive rates. Therefore, it is incumbent on the provider to have a high degree of suspicion for paraganglioma/pheochromocytoma when clinical features are unusual for preeclampsia, such as intermittent palpitations, diaphoresis, orthostatic hypotension, or hyperglycemia. Early detection of paraganglioma/pheochromocytoma with interventions to mitigate the risk of hypertensive crisis greatly reduce maternal and fetal mortality. Fortunately, our patient delivered a healthy baby and did not have any additional pregnancy complications despite the delay in her diagnosis.
妊娠期间嗜铬细胞瘤或副神经节瘤的新表现非常罕见，可危及母婴生命。
我们报告了一例 26 岁、孕 3 产 2 的高加索裔健康女性，在 34 周妊娠时出现新发高血压，伴有头痛、干呕、出汗和心悸。她最初被诊断为先兆子痫，并接受拉贝洛尔治疗和紧急剖宫产，产下一名健康女婴。在产后 6 周，当她继续出现高血压且具有非典型特征时，对先兆子痫的诊断产生了疑问。检查结果显示与琥珀酸脱氢酶 B 基因突变相关的转移性副神经节瘤。随后，患者开始接受α-肾上腺素能阻滞剂治疗，并密切监测血压，同时正在讨论先进的治疗方法。
本病例表明，由于妊娠晚期新发高血压伴有头痛和蛋白尿，与嗜铬细胞瘤/副神经节瘤的重叠特征，可能会误诊为先兆子痫。由于这些肿瘤罕见且高假阳性率带来的危害，对所有诊断为先兆子痫的孕妇常规筛查嗜铬细胞瘤/副神经节瘤是不切实际的。因此，当临床特征不典型时，如间歇性心悸、出汗、直立性低血压或高血糖，医生应高度怀疑嗜铬细胞瘤/副神经节瘤。早期发现嗜铬细胞瘤/副神经节瘤并采取干预措施降低高血压危象的风险，可大大降低母婴死亡率。幸运的是，尽管我们的患者诊断延迟，但她仍产下了一名健康婴儿，且没有任何其他妊娠并发症。
