Poster Presentation ESA-SRB 2023 in conjunction with ENSA

Masquerading mass: Clinically silent paraganglioma (#310)

Victoria A.L. Kanowski 1 , Luke Conway 2 3
  1. Department of Medicine, Cairns Hospital, Cairns, QLD, Australia
  2. Department of Diabetes and Endocrinology, Cairns Hospital, Cairns, QLD, Australia
  3. School of Medicine and Dentistry, James Cook University, Cairns, QLD, Australia

Introduction:
Paragangliomas are rare neuroendocrine tumours arising from chromaffin cells of the autonomic nervous system. When originating in the sympathetic nervous system, they have the potential to secrete catecholamines.1 Although incidence is ~0.8 per 100,000 people, increasing susceptibility is seen with inherited syndromes such as neurofibromatosis type 1 (NF1).2 We present a case of masquerading mass confirmed to be a paraganglioma in a patient with newly diagnosed NF1.

Case:

A 66 year old First Nations male was referred with elevated ESR (80mm/hr) and several weeks of fatigue. He was otherwise asymptomatic. Apart from elevated blood pressure (160/99mmHg), vital signs were normal (heart rate 70-80 beats/minute).

CT chest/abdomen/pelvis revealed a 39x23x26mm mass behind the inferior vena cava, partial right kidney infarction, enhancing small bowel lesion, oesophageal wall thickening, and diffuse bony abnormality.

Due to the asymptomatic nature of the presentation and the confounding presence of elevated ESR, investigations were broad. Although typical NF1 clinical features including cutaneous lesions were present, paraganglioma was not initially considered. Eventual biochemical testing for neuroendocrine tumour revealed elevated normetadrenaline (5350pmol/L), metadrenaline (540pmol/L) and chromogranin A (236µg/L).

The retroperitoneal lesion was surgically excised and paraganglioma confirmed on histopathology. The small bowel lesion was not DOTATATE avid on PET and remains under surveillance. The ESR was presumed secondary to an underlying unrelated inflammatory condition.

Discussion:
Patients with NF1 can have hypertension related to paraganglioma or renovascular disease. They are at ~5% risk of developing extra-adrenal paraganglioma.3 If left unchecked, the secretion of excessive catecholamines can lead to life-threatening hypertension, cardiac arrhythmias, and sudden death.4

Conclusion:
Given presentation can be asymptomatic, there is a need for increased recognition and screening of paraganglioma in high-risk populations to avoid potentially life-threatening complications. For patients with other clinical features suggestive of neurofibromatosis, surveillance for paraganglioma should be considered.

  1. Neumann H, Young WF, Eng C. Pheochromocytoma and Paraganglioma. N Engl J Med. 2019;381(6):1-9.
  2. Beard CM, Sheps SG, Kurland LT, et al. Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979. Mayo clin Proc 1983; 58:802.
  3. Petr E, Else T. Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. Clin Diabetes Endocrinol. 2018; 4:15
  4. Al-Sharefi A, Javaid U, Perros P, et al. Clinical Presentation and Outcomes of Phaeochromocytomas/ Paragangliomas in Neurofibromatosis Type 1. Eur Endocrinol. 2019;15(2):95-100.