Pheochromocytoma, first manifestation of Von Hippel-Lindau disease: a possibility to be considered

Von Hippel-Lindau (VHL) disorder is an autosomal dominant disease characterized by the almost constant development of hemangioblastomas in the central nervous system (cerebellum, spinal cord and retina). In addition, various types of tumors including renal cell carcinomas, pancreatic cysts and pheoc...

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Bibliographic Details
Published inArchives des maladies du coeur et des vaisseaux Vol. 85; no. 8; p. 1153
Main Authors Richard, S, Resche, F, Vermesse, B, Fendler, J P, Francillard, M, Laroche, F, Luton, J P, Méry, J P, Proye, C, Redondo, A
Format Journal Article
LanguageFrench
Published France 01.08.1992
Subjects
Adolescent
Adrenal Gland Neoplasms - complications
Adrenal Gland Neoplasms - diagnosis
Adrenal Gland Neoplasms - genetics
Adult
Child
Child, Preschool
Female
Humans
Male
Middle Aged
Pheochromocytoma - complications
Pheochromocytoma - diagnosis
Pheochromocytoma - genetics
von Hippel-Lindau Disease - complications
von Hippel-Lindau Disease - diagnosis
von Hippel-Lindau Disease - genetics
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Summary:Von Hippel-Lindau (VHL) disorder is an autosomal dominant disease characterized by the almost constant development of hemangioblastomas in the central nervous system (cerebellum, spinal cord and retina). In addition, various types of tumors including renal cell carcinomas, pancreatic cysts and pheochromocytomas are frequently observed in VHL gene carriers. Linkage of the VHL locus to the RAF-1 oncogene on the short arm of chromosome 3 (3p25-26) has been recently reported. Pheochromocytoma is of particular interest because of the risk of inaugural malignant hypertensive crisis but especially because of a great degree of interfamily variability (from 0 to 92% of affected members in previously reported large kindreds). We have studied a French series of 25 pheochromocytoma (11 males, 14 females) in VHL affected patients. Twenty pheochromocytoma (80%) occurred in a familial context, whereas 5 (20%) were consistent with "apparent sporadic cases". The mean age at pheochromocytoma diagnosis was 27 years (5-55 years). Bilateral tumours have been documented in 13 cases (52%). The prevalence of pheochromocytoma revealing VHL was 14 out 25 (56%). In these cases, VHL diagnosis was considered up to 25 years later. In 6 cases (2 deceased) pheochromocytoma was the only manifestation of VHL. Thus, search for VHL must be systematic in the presence of pheochromocytoma, in the interest of the patients themselves and of potential at-risk family members (prevention of hypertensive crisis linked to latent tumours). Basic check-up (neurological and somatic examination, ophthalmoscopy, familial inquiry) may be completed with cerebral CT scan or MRI and abdominal ultrasonography followed, if positive or doubtful, by abdominal MRI or selective angiography.
ISSN:0003-9683