Endocrine Post Clinic ConferenceSeptember 2, 2011

24 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?

Livedo reticularis?

Case: Laboratory Data

139

3.7

104

19

28 1.0

127

16

489 220

Calcium 9.4Calcitonin < 0.2

LFTs normalAlbumin: 4.4

Thyroid function tests normal

Urinenormeta 9125

(<600)metaneph 9256

(<900)Plasma

normeta 4258 (<149)

metaneph 4302 (<206)

catechol 12182 (<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;89:479-491

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: 10.1111/j.1365-2362.2011.02518.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. 6 2596-2606Nuclear Medicine Communications July 2006 vol. 27 no. 7 583-587

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. 12 4757-4767

Other diagnostic tools

Adrenal vein samplingHigh 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

1Clin Cancer Res October 15, 2009 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