Archives of Dermatological Research

, Volume 303, Issue 5, pp 317–325 | Cite as

Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

  • Laura Zinnamosca
  • Luigi Petramala
  • Dario Cotesta
  • Cristiano Marinelli
  • Mauro Schina
  • Rosario Cianci
  • Sandra Giustini
  • Susanna Sciomer
  • Emanuela Anastasi
  • Stefano Calvieri
  • Giorgio De Toma
  • Claudio Letizia
Original Paper

Abstract

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.

Keywords

Neurofibromatosis type 1 Pheochromocytoma Cardiovascular diseases 

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Laura Zinnamosca
    • 1
  • Luigi Petramala
    • 1
  • Dario Cotesta
    • 1
  • Cristiano Marinelli
    • 1
  • Mauro Schina
    • 3
  • Rosario Cianci
    • 1
  • Sandra Giustini
    • 2
  • Susanna Sciomer
    • 3
  • Emanuela Anastasi
    • 4
  • Stefano Calvieri
    • 2
  • Giorgio De Toma
    • 5
  • Claudio Letizia
    • 1
  1. 1.Department of Clinical Sciences, Secondary Hypertension UnitUniversity “Sapienza”RomeItaly
  2. 2.Department of DermatologyUniversity “Sapienza”RomeItaly
  3. 3.Department of CardiologyUniversity “Sapienza”RomeItaly
  4. 4.Department of Experimental MedicineUniversity “Sapienza”RomeItaly
  5. 5.Department of Surgery “Pietro Valdoni”University “Sapienza”RomeItaly

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