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pheochromocytoma-pathogenesis-and-clinical-findings

Pheochromocytoma: Pathogenesis and clinical findings Author: Jaye Platnich Huneza Nadeem Reviewers: Mark Elliott Alexander Arnold Ran (Marissa) Zhang Hanan Bassyouni* * MD at time of publication ↑ Blood pressure results in the activation of neural pain receptors Sustained or paroxysmal 2o hypertension (↑ blood pressure) Pallor Tachycardia (↑ heart rate), palpitations Diaphoresis (excessive sweating) Hyperglycemia Weight loss, fatigue Familial Disorders (10%) E.g., Multiple Endocrine Neoplasm 2 Syndrome (MEN2) types A and B, Neurofibromatosis 1 (NF-1), Von Hippel Lindau Syndrome (VHL), familial pheochromocytoma Dysfunction of various tumor suppressor and/or oncogene proteins Uncontrolled proliferation of the chromaffin cells in the medulla of the adrenal gland(s) Adenoma formation (10% bilateral) Over-production of epinephrine and norepinephrine from the adrenal adenoma(s) or extra- adrenal tumour (10%) Detectable metanephrines (epinephrine/norepinephrine breakdown products) in both plasma and urine Sporadic DNA mutations arising from DNA damage from exposure to mutagens, malignancy (10%), or during DNA replication Detectable mutations on the Von Hippel Linda (VHL), (Rearranged During Transcription) RET, (Succinate Dehydrogenase) SDH, and/or other tumour suppressor or oncogenes Visible adrenal mass on CT scan Heart attack, stroke, or death (Note: These tumors can be fatal therefore screening is essential in patients with adrenal masses or 2o hypertension) Episodic hyper-activity of the sympathetic nervous system Hyper-stimulation of G protein-coupled receptors involved in catabolic metabolic processes Headaches ↑ Vasoconstriction of peripheral blood vessels Hyper-stimulation of adrenergic receptors on cardiac myocytes ↑ Secretion from the eccrine sweat glands Panic, tremor, anxiety ↑ Ability to mobilize glucose into the bloodstream through enhanced lipolysis, glycogenolysis and gluconeogenesis Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published February 20, 2014, updated June 27, 2022 on www.thecalgaryguide.com