ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an […]

The two index patients of the family analyzed in this study had undergone bilateral adrenalectomy for pheochromocytomas. This prompted genetic analyses of the probands and seven first-degree relatives. The two pheochromocytoma patients and two additional asymptomatic family members were found to harbor a mutation c496G>T in exon 3 of the VHL gene. The family was then lost to systematic follow-up. Three years after performing the initial genetic evaluation, the sister of the probands, who was known to carry the same […]

We present a case report that the patient had symptoms suggesting pheochromocytoma, a large tumor (> 50 g) and a single minimally altered laboratorial test, exemplifying a diagnostic pitfall. A 31y.o. male patient had two acute abdominal events, the last one accompanied by headache, arterial hypertension, facial flushing, perspiration and cutaneous pallor. In another admission, the patient had sustained arterial hypertension and cardiac arrhythmia. From laboratory analysis, the vanililmandelic acid was slightly modified. Scintigraphy disclosed a large adrenal mass suggesting […]

Arterial hypertension is associated with high morbidity and mortality indices and constitutes a major health problem worldwide, specially due to its high prevalence and low rate of control with the standard treatment. This problem can be explained, at least in part, because we still use empiric measures when choosing treatment options, instead of a rational approach for each case. The determinants of the hypertension remain unknown in the majority of patients and is designated as essential or primary hypertension. Hypertension […]

We present the experience of Hospital das Clínicas, FMUSP, with the clinical, biochemical and topographic diagnosis of pheochromocytoma, as well as the therapeutic approaches. Although new biochemical tests, as plasma metanephrines determination, have greater sensibility in the diagnosis of this tumor, more feasible tests, such as urinary metanephrines and urinary and plasma catecholamines, still have important diagnostic value. Eventual false-negative and false-positive results can be identified with stimulation and suppression tests and drug withdrawal. Magnetic resonance imaging has the greatest […]

Pheochromocytomas (pheo) cause the most dramatic, life-threatening crises in all of endocrinology. A proper screening for pheo must be performed in any patient who has: 1) episodic headaches, tachycardia, and diaphoresis; 2) family history of pheo or multiple endocrine neoplasia; 3) incidental suprarenal mass; 4) paroxysms of tachyarrhythmias or hypertension; 5) adverse cardiovascular responses to anesthetic agents, histamine, phenothiazine, tricyclic antidepressants, etc); and 6) spells occurring during exercise, straining, etc. The key to diagnosing pheo is to suspect it, then […]