ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P29 | DOI: 10.1530/endoabs.63.P29

Pheocromocytoma, newly diagnosed during pregnancy in a subject with neurofibromatosis type 1: A case report and review of literature

Marjeta Kermaj1, Alma Isufi2, Adriana Misja2, Violeta Hoxha1, Thanas Fureraj1, Ermira Muco3, Mirjeta Guni4, Klotilda Resuli5 & Agron Ylli1

1Department of Endocrinology, UHC ‘Mother Tereza’, Tirana, Albania; 2Department of Anesthesiology, Intensive Care, UH of Obstetrics and Gynecology ‘Koco Glozheni’, Tirana, Albania; 3Department of Infectious Disease, UHC ‘Mother Tereza’, Tirana, Albania; 4American Hospital, Tirana, Albania; 5Regional Hospital of Vlora, Vlora, Albania.

Introduction: Pheocromocytoma, is a rare cause of hypertension diagnosed during pregnancy, with a prevalence 0.002%, due to its non-specific presentation and difficulty to distinguish its hypertension from other clinical conditions during pregnancy. Early diagnosis and appropriate treatment have a great impact on maternal and fetal mortality. Pheocromocytoma is sporadic in the majority of cases, but up to 25% may be syndrome-associated.

Case report: We report a clinical case of a woman 29 years old, with neurofibromatosis type 1, presented during the third trimester (31 weeks) of her first pregnancy with severe hypertension, at maternity hospital.

Medical history: She was diagnosed since child with neurofibromatosis type 1. Without other medical problems during her life. Negative familiar history. She referred episodes of severe hypertension till 280/160 mmHg, initiated during the second trimester (13 weeks), characterized by headache, palpitation, tachycardia, tachypnea, sweeting, pallor that lasted some minutes. The situation was normalized without treatment. Out these crises, the blood pression was normal (120/80 mmHg). At the beginning, these episodes were not frequent (1 per month), but after 31 weeks of pregnancy, they became more frequent (1 per week). It was started treatment with α/β blockers (Methyldope 250 mg 4×2 pills, aspirine 100 mg per day) but after 33 weeks they became very frequent, 1 episode per day at different time of the day, without any specific trigger. It was suspected for pheocromocytoma. Catecholamines and metanephrines were measured in 24-hour urine that resulted high: 566 μg/24h (N<565) and 600 μg/24h (N 30–180 for >17-year-old) respectively. Magnetic resonance of abdomen resulted with a solid regular mass in left adrenal gland with dimensions 58×40 mm. It was started doxazosine 2 mg/day, and atenolol 100 mg 2×1/2. After that, she was stabilized. At 38 weeks, she underwent section cesarean under a multidisciplinary team assistance and everything went well. Four months after delivery, she continues to be stabilized under treatment with doxazosine and atenolol, waiting for surgery (left adrenalectomy) in a second time, hoping a definitive resolution of pheocromocytoma.

Conclusion: Given the low frequency of hypertension due to pheocromocytoma diagnosed during pregnancy, and the important role of early diagnosis and adequate treatment, on maternal and fetal mortality, physicians should beware of possible pheocromocytoma (especially in a subject with neurofibromatosis type 1) as cause of hypertension during pregnancy. A multidisciplinary team assistance is important to provide the better pregnancy outcomes.