Bilateral Familial Pheochromocytoma: Difficulty of Diagnosis and Management

Abstract

Introduction: Bilateral pheochromocytoma is a rare tumor, often seen in the context of a family illness. The majority of pheochromocytomas are sporadic, but they can also occur within the framework of genetic diseases (10%): MEN2, VPL, NF1, familial paraganglioma (mutation of SDHB)⋯ In the context of a familial genetic disease, the pheochromocytoma can be either unilateral or bilateral, benign in 95% of cases and malignant in 5%. It still poses several problems related to its diagnosis, genetic aspects, especially in the absence of a family history. And the criteria of malignancy, given the non-existence to date of a certain & universal criterion that judges the malignancy of the tumor. We present through this article the exceptional case of “bilateral familial pheochromocytomas with strong suspicion of malignancy”.Clinical Case: A 29-year-old lady, hypertensive since 4 years, admitted for exploration of severe secondary hypertension. She reports a triad of menard and severe lumbar pain, the somatic examination shows hypersensitivity of the flanks, a BP of 240/120 mmhg. the abdominal CT scan confirmed by an MRI show a right adrenal mass of 5 cm & another left of 1 cm, of suspicious appearance (irregular contours, areas of necrosis, heterogeneity, spontaneous density at 35 HU, a wash out at 33% with presence of L4 spinal angioma and peri-aortic lymph nodes. urinary methoxylated derivatives (UMD) returned high. The genetic study was positive VPL (on various radiological tests, there was just a spinal angioma) We retained the diagnosis of familal bilateral pheochromocytoma. In front of the clinical & radiological signs of malignancy, we decided to do: a right total adrenalectomy & a left partial adrenalectomy. Unfortunately, the blood pressure didn’t drop, and UMD were still positive; the anatomopathological study shows a pheochromocytoma with a PASS score estimated at 3 (benign!) Faced with conflicting clinical-radiological and histological data, we decided to total adrenalectomy without lymph node dissection and to closely monitor the progress. the post Op blood pressure was normalized and the UMD returned negative.Conclusion: Malignant familial bilateral pheochromocytoma is a very rare & very difficult entity to diagnose, manage & monitor. A good management requires serious collaboration between: endocrinologist, radiologist, urologist, pathologist