Endocrine Abstracts

JOINT1740

Introduction: Pheochromocytomas (PHEOs) are rare tumors arising from chromaffin cells and secreting catecholamines. Arterial vasospasm is an organ and life-threatening condition. We present a rare case of recurrent coronary and cerebral vasospasms as an initial presentation of PHEO.

Case presentation: A 65 y-o female, known for type 2 diabetes, first presented for thunderclap headache that lasted 4 minutes. Cerebral CT-scan was normal. Two weeks later, she returned with recurrent symptoms plus retrosternal pain. Cerebral angio-CT scan demonstrated arterial vasospasms. She was diagnosed with reversible cerebral vasospastic syndrome (RCVS) plus vasospastic angina and started on calcium channel blockers (CCB). Three months later, she returned with retrosternal pain and non-ST-segment elevation myocardial infarction (high-sensibility troponins 279 ng/l, N 0-34), but normal coronary angiography and transthoracic cardiac ultrasound. In the following months, she experienced multiple paroxysmic episodes of headache and retrosternal pain, with palpitations and diaphoresis, but normal blood pressure. After multiple visits to the emergency room, PHEO was diagnosed with elevated plasma metanephrines (2.52 nmol/l, n <0.48) and normetanephrines (4.46 nmol/l, n <1.20), as well as 24h urinary catecholamines (noradrenaline: 832 nmol/d, n <472; adrenaline: 402 nmol/d, n <108; normetanephrines: 1524 nmol/d, n <235; metanephrines: 1298 nmol/l, n <269). Adrenal MRI showed a 4.7 × 4.8 cm right adrenal mass, with DOTATATE-PET CT SUVmax of 14. Alpha-blocker was started. Peri-operative management included CCB maintenance and crystalloids administration. The patient underwent right laparoscopic adrenalectomy without significant hemodynamic instability. Pathology confirmed a PHEO, with PASS score of 4 and Ki-67 of 1.63%. All medication was stopped afterwards. Four months later, the patient is in clinical and biochemical remission.

Genetic analysis: Multigene panel of 19 PHEO susceptibility genes performed on leucocyte DNA (INVITEA) identified a rare missense variant of uncertain significance in the gene TMEM127 (c.427G>A (p.Val143Ile), gnomAD exomes allele frequency: 2.531160e-05).

Discussion: PHEO diagnosis is often overlooked in this context. In our cohort of 465 patients with PHEO and paragangliomas, no other patient was diagnosed with arterial vasospasm. However, coronary and cerebral vasospasms were individually previously described as very rare complications of PHEOs in four and ten patients respectively, but never simultaneously. Some authors suggest that PHEO should be excluded in RCVS, but we did not find such recommendation for coronary vasospasm.

Conclusions: To our knowledge, this is the first case of a patient with PHEO presenting with both multiple recurrent coronary and cerebral vasospasms. This atypical presentation should be known of medical teams to avoid potential delay in PHEO diagnosis.