Phaeochromocytoma and paraganglioma are neuroendocrine tumours that can secrete catecholamines. They are exceptionally rare in pregnancy, with incidence estimates of 1 in 15,000 to 1 in 300,000.1 They carry significant morbidity and mortality, resulting in pre-eclampsia, foetal loss, and death.2 Evidence for their management remains limited given their rarity.
A 19-year-old woman (G1P0) presented at 20 weeks with new onset hypertension of 155/114mmHg, headaches and palpitations. She was known to gastroenterology for a presumed intrahepatic lesion. Family history was significant for maternal SDHB mutation.
Plasma normetanephrine was elevated [21,000pmol/L (50-540pmol/L)], along with 3-methoxytyramine [357pmol/L (<90pmol/L)], with normal metanephrine [135pmol/L (30-450pmol/L)]. MRI whole body showed a 47x54x53mm upper abdominal lesion. Following prazosin uptitration to 5mg three times daily and salt loading with high salt diet and intravenous fluids, she underwent open resection of paraganglioma at 22 weeks’ gestation, with intraoperative hypertension to 210mmHg systolic. Histology demonstrated sympathetic paraganglioma, SDH deficient. Post-operative plasma metanephrines normalised. Genetic testing confirmed c689G>A pathogenic variant in SDHB gene. She remains pregnant with no further complications.
This case describes paraganglioma diagnosed and surgically managed during pregnancy. It highlights the importance of secondary hypertension screening (including plasma metanephrines) in early pregnancy, particularly in patients with relevant family history. Alpha blockade should be established for at least one week prior to considering beta blockade. Surgery should be considered if diagnosed prior to 24 weeks.2 All patients should be referred for genetic testing.2 Patients with the autosomal dominant SDHB mutation require lifelong surveillance due to risk of recurrence and metastasis.3