Pheochromocytoma/paraganglioma type 5 syndrome as a cause of secondary hypertension in a Colombian patient: case report

Abstract

Pheochromocytoma is a tumor derived from neural crest cells, with the capacity to produce sympathomimetic substances and with this a particular clinical picture. It causes less than 1% of cases of high blood pressure and its incidence is estimated between 0.4-0.6 cases per 100,000 people each year, with an average survival of 7 years. Of all solid tumors, pheochromocytoma has a greater genetic component, with a heritability of up to 40%. Once it has been diagnosed, the treatment and prognosis must be defined, part of it conditioned by the associated pathogenic variants that can be documented, with special interest in the RET, SDHx, VHL and NF1 genes.
The case of a young woman with abdominal pain and high blood pressure, in whom a pheochromocytoma was documented is presented. When genetic testing was carried out, an extremely rare and recently discovered pathogenic variant was identified, SDHA :c.1A>C (p.Met1Leu). The patient responded adequately to the surgical treatment and continued follow-up without documented recurrences.
In the diagnostic approach to patients with pheochromocytoma, clinical suspicion must be started, followed by measurement of metabolites in blood and urine, and finally imaging. Currently, the development of technology allows the application of precision medicine. In the case of pheochromocytoma, a large associated genetic component is recognized. That not only affects the patient, but also her family. Carrying out adequate screening of the index patient allows for documenting pathogenic variants and thus better characterizing the disease.