Diagnosis and Treatment > Investigation > Metanephrines (plasma)
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Search for other papers by Stephanie Teasdale in
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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
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Phaeochromocytoma can have varied clinical presentations.
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Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma.
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The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.
Second Department of Internal Medicine, Papanikolaou General Hospital, Thessaloniki, Greece
Search for other papers by Maria Pikilidou in
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Search for other papers by Marios Katsounaros in
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Summary
We report a case of a female with hemihypertrophy, who developed five recurrences of pheochromocytomas until the age of 35. Timely follow-up of the patient's blood pressure assisted in early diagnosis and treatment of recurrent tumors.
Learning points
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Recurrent benign pheochromocytomas should raise suspicion of a genetic syndrome.
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A pheochromocytoma at a young age has a high propensity to recur and strict follow-up is mandatory.
