Endocrine Post Clinic Conference September 2, yo man with hypertension

 Case presentation  CT results  Imaging algorithms  Role of MIBG  Other diagnostic tools  Genetics  Case discussion Outline: Pheochromocytoma

Case : H&P Asymptomatic SBP 230s in 2009 on routine post- deployment exam Reports elevated catecholamines but no findings on CT / MR / MIBG Tried on beta-blockers which made him feel lousy. + orthostasis Now with sweats, palpitations, panic attacks, occasional left sided chest pain. +history of migraines, unchanged Currently without treatment, has tried to avoid physical stresses

Case 1: H&P Past Medical History: Hypertension first noted 2009 Migraines since age 12 PTSD no prior surgeries

Case 1: H&P Medications: xanax prn anxiety Social: smokes <1 ppd occ EtOH no cocaine/meth or other illicits Family: Immediate family healthy without hypertension

Case 1: H&P Physical Exam: T 99.3, HR 86, 180/132, 100% on room air Well-developed, well-nourished male, NAD Eyes: PERRL, EOMI, no lid lag, no stare, vision full to confrontation Neck: no thyromegaly, no masses, no nodules RRR without m/r/g CTAB Abd benign Skin warm and mildly diaphoretic

Livedo reticularis?

Case: Laboratory Data Calcium 9.4 Calcitonin < 0.2 LFTs normal Albumin: 4.4 Thyroid function tests normal Urine normeta 9125 (<600) metaneph 9256 (<900) Plasma normeta 4258 (<149) metaneph 4302 (<206) catechol (<504) (plt giant and clumped)

CT “ Heterogeneously enhancing, partially necrotic right adrenal mass measuring 3.8 cm... ” Next step?

Ilias I, Pacak K JCEM 2004;89:

MIBG Controversy: All cases or only when unable to find a typical tumor or when high suspicion for malignancy? Malignancy associated with extra-adrenal location, larger tumor size and +SDHB mutation Metastatic tumors larger, present at younger age and more likely necrotic on path Metastatic pheochromocytoma: Does the size and age matter?. European Journal of Clinical Investigation. doi: /j x

MIBG Recent meta-analysis placed sens/spec at 94% and 92% for pheo In a study of 32 patients, able to reach 100% sensitivity and ppv with MRI+MIBG. Only false negatives (three) with MIBG alone were either small or necrotic intraadrenal masses The Journal of Clinical Endocrinology & Metabolism June 1, 2010 vol. 95 no Nuclear Medicine Communications July 2006 vol. 27 no

Patient’s MIBG Right Left Inverted MIBG image

Other diagnostic tools PET > MIBG? A 2009 prospective observational study of 52 patients found greater sensitivity for metastatic disease with PET/CT than MIBG The Journal of Clinical Endocrinology & Metabolism December 1, 2009 vol. 94 no

Other diagnostic tools Adrenal vein sampling High variability even in normal patients increases risk of false positives Adrenal venous sampling for catecholamines: a normal value study. Clin Endocrinol Metab. 2010;95(3):1328

Syndromes MEN 2 vonHippel Landau Neurofibromatosis Familial paragangliomas

When to test genetics? 1/3 pheos carry germline mutation In one study, of 989 apparently non- syndromic patients, 342 with mutation. Only 8 of these missed if ignored age>45, only single adrenal pheos and those without prior head/neck paraganglionomas 1 Clin Cancer Res October 15, ; 6378

Plan for this patient Continue alpha blockade in prep for OR MRI to better visualize left adrenal If no clear mass in left adrenal, adrenal venous sampling? Just leave left side alone? Take out whole left adrenal? Consider genetic testing