Familial Pheochromocytoma, Hypercalcemia, and Von Hippel-Lindau Disease

Normotensive Bilateral Pheochromocytoma with Lindau Disease: Case Report.

“…These findings suggest that the disease manifestation of VHL lesions differs among races or families. In Japan, 17 of 103 cases composing VHL family were accompanied by pheochromocytoma [4], and this frequency is close to the 14% average in foreign reports [3,6].…”

“…Pheochromocytoma, which accounts for less than 1 % of patients with systemic hypertension [7], is a feature of several disorders with an autosomal dominant pattern of inheritance, including multiple endocrine neoplasia (MEN)-type2, von Hippel-Lindau disease, and von Recklinghausen's disease. In patients with VHL lesions, the frequency of pheochromocytomas reportedly ranges from 5 to 60% [3,6]. In one study of patients with pheochromocytomas, 23% were carriers of an inherent disorder, and 19% had associated VHL disease [8].…”

“…Normal levels of catecholamines or their metabolites in these patients cannot rule out the presence of a pheochromocytoma [9], and pheochromocytomas are known to vary widely not only in size and clinical features, but also in the catecholamine production rate and metabolism [10]. Atuk et al reported that 11 of 12 VHL patients with pheochromocytoma showed a significant increase in urine noradrenaline excretion but adrenaline was mildly increased in only 3, and blood pressure was consistently normal in 5 middle-aged patients despite a persistent increase in noradrenaline, and the catecholamine contents of pheochromocytomas gradually decreased with age [6]. These findings suggest that the catecholamine degrading activity may increase or the sensitivity of adrenergic receptors may decrease with age in VHL associated pheochromocytoma [6,11].…”

“…Atuk et al reported that 11 of 12 VHL patients with pheochromocytoma showed a significant increase in urine noradrenaline excretion but adrenaline was mildly increased in only 3, and blood pressure was consistently normal in 5 middle-aged patients despite a persistent increase in noradrenaline, and the catecholamine contents of pheochromocytomas gradually decreased with age [6]. These findings suggest that the catecholamine degrading activity may increase or the sensitivity of adrenergic receptors may decrease with age in VHL associated pheochromocytoma [6,11]. Also in this case, plasma and urine noradrenaline and metabolite concentrations were increased, and the results of catecholamine stimulating tests supported the diagnosis of pheochromocytoma.…”

Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus

“…The male female ratio was 1.5/1 in family 9-14 and 1/1 in the VHL panel. Table 3 summarizes the observations in family 9-14 and compares the results to observations made by others (Atuk et al 1979;Green et al 1986;Lowden and Harris 1976). In each of the VHL families described in these reports, pheochromocytoma was the predominant disease manifestation and renal cell carcinoma was infrequent.…”