Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects.
The aim of the study was to evaluate the prevalence of pheochromocytoma (PHEO) in patients with neurofibromatosis type 1 (NF1), and to analyze the behavior of some anthropometric and cardiovascular parameters. In 48 consecutive NF1 patients, urinary metanephrines and vanillylmandelic acid excretion were assessed. The body mass index (BMI), waist circumference (WC), ambulatory blood pressure monitoring (ABPM), echocardiography and ultrasound carotid arterial wall evaluation were performed. In NF1 patients, 11 (29.3%) had arterial hypertension, 7 (14.6%) had a PHEO. Four (57%) NF1 patients with PHEO were symptomatic at the diagnosis. In PHEO-NF1 patients, we revealed a lower BMI and WC values with respect to NF1 patients without PHEO and normal subjects (NSs) (p < 0.05), respectively. The nocturnal non-dipping pattern at the ABPM was present in 40.4% of NF1 patients, and in particular this phenomenon was present in PHEO-NF1 patients (71.4%). Left ventricular mass index and intima media thickness were significantly higher in NF1 patients as compared to NS (p < 0.05), particularly in NF1-PHEO patients (p < 0.05). In conclusions, these findings revealed high prevalence of PHEO in NF1 patients and suggest that, in addition to blood pressure, humoral factors (increased sympathetic activity or neurofibromin), influence the pathogenesis of remodeling of cardiovascular system.
Department of Clinical Sciences, Secondary Hypertension Unit, University "Sapienza", Policlinico Umberto I, Viale del Policlinico, Rome, Italy.
Laura
L
Zinnamosca
Luigi
L
Petramala
Dario
D
Cotesta
Cristiano
C
Marinelli
Mauro
M
Schina
Rosario
R
Cianci
Sandra
S
Giustini
Susanna
S
Sciomer
Emanuela
E
Anastasi
Stefano
S
Calvieri
Giorgio
G
De Toma
Claudio
C
Letizia
D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000453:epidemiology / Q000503:physiopathology*; D000313:Adrenal Medulla / Q000473:pathology; D000328:Adult; D001794:Blood Pressure; D018660:Blood Pressure Monitoring, Ambulatory; D015992:Body Mass Index; D002319:Cardiovascular System / Q000473:pathology; D004452:Echocardiography; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications; D008297:Male; D008676:Metanephrine / Q000652:urine; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications / Q000453:epidemiology* / Q000503:physiopathology; D010673:Pheochromocytoma / Q000150:complications / Q000453:epidemiology* / Q000503:physiopathology; D015995:Prevalence; D014642:Vanilmandelic Acid / Q000652:urine
D008676:Metanephrine; D014642:Vanilmandelic Acid