Pheochromocytoma and Paraganglioma in Colombia. Insights to a Rare Disease in Developing Countries and Opportunities to Improve Gaps in the Care of Pheo/PG Patients

Presentation Number: SUN 413
Date of Presentation: April 2nd, 2017

Alejandro Roman-Gonzalez*1, Juliana Sierra2, Joanna Marquez2, Jorge Donado3, Camilo Jimenez4 and Johnayro Gutierrez5
1Hospital Uiversitario San Vicente Fundacion-Universidad de Antioquia, Medellin, Colombia, 2Universidad de Antioquia, Colombia, 3Hospital Pablo Tobon Uribe, Colombia, 4The University of Texas MD Anderson Cancer Center, Houston, TX, 5Universidad de Antioquia

Abstract

Introduction:Pheochromocytoma(pheo) and paraganglioma(pg) are rare neuroendocrine tumors derived from neural crest cells. The primary objective of this study is to describe the clinical characteristics of and the subsequent challenges that patients with Pheo and Pg may face in a developing country

Methods: Observational cohort study of patients with a diagnosis of Pheo/Pg in Colombia from January 2005 to February 2016.

Results: Our cohort included 32 patients. 84.4% (n=27) had a Pheo and 15.6% (n=5) had a Pg. 61.2 % were women; mean age at diagnosis was 45.19 ± 17.40 years. 80% exhibited hypertension; of these 7 had paroxysmal hypertension(22.5%). Other symptoms were: headaches 45.1%, diaphoresis 38.7%, palpitations 35.4% and constipation 6.4%. 37.5% (12/32) presented as an incidentaloma. Biochemical testing with a combination of fractionated urinary metanephrines and vanillylmandelic acid confirmed diagnosis. Measurement of plasma metanephrines was not available. Median primary tumor size was 5.15 cms (range). Median time of diagnosis from the time of symptoms was 0.25 years, range 0-17 years. 11 patients had a personal and/or family history suggestive of a genetic syndrome: 8 patients with MEN2A (history of medullary thyroid carcinoma), 2 patients with a familial Pg syndrome and 1 patient with VHL; only 4 patients underwent confirmatory gene testing (12.5%). Limitations for gene testing included: lack of insurance coverage, cost, very limited access to gene testing methodology, concerns for insurance discrimination, and cultural aspects. Surgery of the primary tumor was offered to all patients. 23/32 patients had perioperative complications including hypertensive crisis 60.8%, hypotension 47.8%, bleeding 8.7% and death 4.3%. A tumor size larger than 5 cm was associated with a higher rate of peri-operative complications RR 6.33 (0.65-80.79), p=0.12. Median follow-up time was 18 months. Metastatic tumors were found in 21.8% (n=7). 18.5% of Pheos were metastatic. 40% PG were metastatic. The median size of the primary metastatic tumors was 5 cm; the median size of the non-metastatic primary tumors was 6 cm. Survival analysis showed a density incidence of 24.63 recurrence /1.000 exposed / year and density incidence of 11.82 deaths / 1.000 exposed /year.

Conclusions: This is the first study describing the problems that patients with Pheo/Pg might face in many developing Latin American countries. Patients are usually diagnosed with large primary tumors and perioperative complications are common. Very few patients are offered genetic studies. The results of this study demonstrate that there is a large need to optimize biochemical, genetic and radiographic diagnosis of these patients and treatment knowledge on how to prevent endocrine complications associated with this disease. This information will be presented local health authorities in order to improve the care of these patients

 

Nothing to Disclose: AR, JS, JM, JD, CJ, JG