Hereditary Paraganglioma Pheochromocytoma Syndrome (HPPS) Presenting as Resistant Hypertension in Patients with ESKD: A Rare Presentation

Introduction: End-stage renal disease (ESRD) is a growing public health concern, with uncontrolled hypertension (HTN) being a frequent complication. While pheochromocytoma, a catecholamine-secreting tumor, can cause HTN, its diagnosis in ESRD patients can be challenging. We present a rare mutation as the cause of pheochromocytoma in an ESRD patient. Case Description: A 39-year-old AA woman with a history of ESRD, uncontrolled HTN with vitreous hemorrhage, MI, and CVA with family history of early MI & CVA presented with severe headaches and palpitations for many days and had 6 similar admissions for the last year. Her BP was uncontrolled with post HD BP noted to be >160/110 & with four antihypertensive. Normal physical exam with vitals stable except for BP of 210/125, confirmed with repeat. EKG was unchanged with T Inversion in a few leads. A secondary HTN workup showed low Dexamethasone <30 mg/ml, Urinary Dopamine <30 mcg, elevated Aldosterone 42.6 ng/dl, Renin 34.9 ng/ml/hr, normetanephrine 534 nmol/L. 24-hour urine showed Epinephrine 67 mcg, Norepinephrine 436 mcg, 24-hour normetanephrine 1041 mcg. CT abdomen scan showed a 1.4 cm left adrenal mass. Genetic testing revealed paraganglioma with SDHAF2 mutation. The 123I-MIBG scan was negative. She is to have a DOTATE 68 gallium PET scan for localization and paraganglioma surgery. She continues to be on HD with multiple antihypertensives. Discussion: Hereditary Paraganglioma Pheochromocytoma Syndrome (HPPS) is characterized by elevated urinary metanephrines, catecholamine levels, and an SDHAF2 mutation. Pheochromocytoma diagnosis in ESRD patients presents challenges due to altered catecholamine metabolism and limited urine sampling. Our case highlights unique diagnostic features, including lower norepinephrine levels and a negative MIBG scan, along with a rare SDHAF2 mutation association. This syndrome is associated with the Succinate Dehydrogenase gene & manifests in four distinct syndromes. Our case corresponds to PGL type 2 with an SDHAF2 mutation. Families with SDHAF2 mutations are exceptionally rare and affected individuals typically present exclusively with head and neck paragangliomas. There is no case of this gene mutation reported in ESRD patients. Surgical removal remains the mainstay of treatment, often preceded by alpha-adrenergic blockade.