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Diagnosis and Treatment > Medication

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Stephanie Teasdale
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Elham Reda Endocrinology, Gold Coast University Hospital, Southport, Queensland, Australia

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Summary

We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1 (NF1). One had an adrenergic phenotype. The other had a more noradrenergic phenotype. Both had large primary tumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, which has been linked with malignancy even in non-SDHB phaeochromocytomas.

Learning points

  • Phaeochromocytoma can have varied clinical presentations.

  • Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma.

  • The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Tumours and neoplasia, Condition/ Syndrome, Ischaemic heart disease, Neurofibromatosis, Phaeochromocytoma, Takotsubo cardiomyopathy, Patient Demographics, Age, Adult, Gender, Female, Male, Ethnicity, White, Country of Treatment, Australia, Diagnosis and Treatment, Signs and Symptoms, Abdominal lump, Cardiomyopathy, Chest pain, Dizziness, Headache, Hypertension, Neurofibromas, Palpitations, Sweating, Tachycardia, Weight loss, Investigation, Catecholamines (plasma), CT scan, Dopamine, Echocardiogram, Electrocardiogram, Histopathology, Liver function, Metanephrines (plasma), Methoxytyramine, MIBG scan, MRI, Troponin, Ultrasound scan, Medication, Alpha-blockers, Beta-blockers, Digoxin, Diltiazem, Labetalol, Metoprolol, Phenoxybenzamine, Prazosin, Related Disciplines, Cardiology, Surgery, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-15-0059
Volume/Issue:
Volume 2015: Issue 1
Open access