Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack

• Type: Article in International Scientific Journal
• Date: 2021

Authors

Castro Teles, J (Author) Other; Sousa Pinto, B (Author) FMUP; Rebelo, S (Author) Other; Pignatelli, D (Author) Other

Journal

Title: Endocrine Connections

Pages: R293-R304

Publisher: BioScientifica Ltd.

Indexing

ISI Web of Knowledge - 16 Citations

Scopus - 16 Citations

Other information

Authenticus ID: P-00V-NPK

DOI: 10.1530/ec-21-0294

Abstract (EN): Objective: Pheochromocytomas are a hallmark feature of von Hippel-Lindau disease (vHL). To our knowledge, this is the first systematic review with meta-analysis evaluating the frequency of pheochromocytomas and/or paragangliomas (PPGLs) in patients with vHL, as well as among patients with different vHL subtypes. Design: Systematic review with meta-analysis. Methods: We searched on MEDLINE, Scopus, and Web of Science. We included primary studies assessing participants with vHL and reporting on the frequency of PPGL. We performed random-effects meta-analysis to quantitatively assess the frequency of PPGL, followed by meta-regression and subgroup analysis. Risk of bias analysis was performed to assess primary studies' methodological quality. Results: We included 80 primary studies. In 4263 patients with vHL, the pooled frequency of PPGL was 19.4% (95% CI = 15.9-23.6%, I-2 = 86.1%). The frequency increased to 60.0% in patients with vHL type 2 (95% CI = 53.4-66.3%, I-2 = 54.6%) and was determined to be of 58.2% in patients with vHL type 2A (95% CI = 49.7-66.3%, I-2 = 36.2%), compared to 49.8% in vHL type 2B (95% CI = 39.9-59.7%, I-2 = 42.7%), and 84.1% in vHL type 2C (95% CI = 75.1-93.1%, I-2 = 0%). In meta-regression analysis, more recent studies were associated with a higher frequency of PPGL. All studies had at least one internal validity item classified as 'high risk of bias,' with 13% studies having low risk of bias in all external validity items. Conclusions: PPGLs are a common manifestation of vHL. Despite methodological limitations and differences across primary studies, our results point to the importance of PPGL screening in patients with vHL.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 12