Case Presentation: A 25-year-old man with ADHD and anxiety presented to the emergency department with four days of acute headache. CT scan of the head revealed an acute left frontal intraparenchymal hemorrhage. Neurosurgery resected a left frontal arteriovenous malformation that had ruptured due to hypertension. Over the next year, he presented to the ED and his primary care clinic on several occasions for hypertension with systolic pressures exceeding 200 mmHg. He was noted to be tachycardic to 120-130 bpm as well. Each time, he was treated with antihypertensives and discharged. 18 months after the AVM rupture, he presented to the ED with acute abdominal pain. He was again tachycardic and hypertensive to >200 mmHg systolic. CT scan of his abdomen showed acute cholecystitis and a 5.5 cm right adrenal mass consistent with pheochromocytoma. He underwent surgery for removal of his gallbladder and adrenal tumor. Pathology revealed a diagnosis of pheochromocytoma. After surgery, his blood pressure normalized and he no longer required antihypertensives. He was seen by genetics but had no identifiable mutations.
Discussion: Essential hypertension affects 30-45% of Americans (depending on the definition used). Secondary hypertension is often overlooked and is likely underdiagnosed an estimated 10% of hypertensive patients. Common causes of secondary hypertension include medications (e.g., steroids, amphetamines), illicit drugs (cocaine), chronic kidney disease, sleep apnea, renal artery stenosis, and hypothyroidism; less common causes are coarctation of the aorta, hyperparathyroidism, Cushing’s disease, and pheochromocytoma. General clues to the diagnosis include age < 30 years old at onset, particularly if no family history of hypertension and non-obese; proven onset before puberty; and extreme or resistant hypertension. Clues for specific diagnoses include snoring (sleep apnea); obesity (sleep apnea or Cushing’s disease); elevated creatinine (chronic kidney disease or renal artery stenosis); constipation, fatigue, or depression (hypothyroidism); hypokalemia (hyperaldosteronism); hypercalcemia (primary hyperparathyroidism); blood pressure difference in upper and lower extremities (coarctation of the aorta); and paroxysmal hypertension, tachycardia, and sweating (pheochromocytoma). In the case described, the patient was diagnosed with a pheochromocytoma as an incidental finding, despite several trips to the ED for severe, paroxysmal hypertension. While pheochromocytoma is a rare diagnosis, this patient had several obvious clues for it, including young age at onset, lack of obesity or family history, and extreme, paroxysmal episodes of hypertension. Despite this, no workup for secondary hypertension had been done, even when he suffered a ruptured AVM requiring a craniotomy. Finally, there is an association of cerebral AVMs with pheochromocytomas in patients with von Hippel Lindau (VHL) syndrome, which could have been identified earlier if present in this patient.
Conclusions: Essential hypertension is often encountered in clinical practice. The familiarity of the disease may lead to an anchoring bias that prevents proper diagnosis of secondary causes hypertension. Providers must consider secondary causes when a patient presents with extreme blood pressures. Young patients with cerebral AVMs or patients with pheochromocytomas at any age should be considered for possible genetic syndromes, such as VHL syndrome or multiple endocrine neoplasia.