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[Pheochromocytoma and paraganglioma]
La Revue Du Praticien
|August 25, 2015
Summary
Pheochromocytoma and paraganglioma (PH/PGL) are genetic causes of secondary hypertension. Genetic testing in PH/PGL patients is crucial for personalized management and family screening.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Context:
- Pheochromocytoma and functional paraganglioma (PH/PGL) are key causes of secondary hypertension.
- Recent discoveries of susceptibility genes have updated clinical practice guidelines for PH/PGL.
- PH/PGL is a neuroendocrine tumor significantly impacted by genetic factors.
Purpose:
- To highlight the genetic basis of PH/PGL and its impact on clinical management.
- To emphasize the importance of genetic testing in PH/PGL diagnosis and family screening.
- To advocate for specialized, multidisciplinary care for PH/PGL patients.
Summary:
- Measuring total metanephrine is recommended for young patients with resistant hypertension.
- Diagnosis involves conventional and nuclear imaging.
- Germline mutations are found in over 30% of PH/PGL cases, necessitating genetic testing for tailored work-up, follow-up, and familial testing.
Impact:
- Genetic testing in PH/PGL patients significantly alters patient management and follow-up protocols.
- Identification of germline mutations enables familial genetic testing, benefiting relatives.
- Specialized management in expert centers is crucial for hereditary or metastatic PH/PGL.
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