Might Rare Familial Cancer Syndrome Be Cause of Cold and Flushing?

The recent "Consultations & Comments" exchange titled "What Cause of Cold and Flushing in a Basketball Player?" (CONSULTANT, November 2007) attracted my attention. The occurrence of flushing and hyperhidrosis in a young man who is 7 ft 3 in tall raises the possibility of pheochromocytoma associated with multiple endocrine neoplasia, type 2B (MEN2B). Other conditions associated with MEN2B can include medullary carcinoma of the thyroid, multiple neuromas, and a marfanoid habitus. Pheochromocytomas can produce flushing because thermal regulation in the face is mediated primarily through sympathetic vasodilator fibers. In addition, pheochromocytomas can secrete calcitonin gene-related peptide, vasointestinal polypeptide, and adrenomedullin, all of which have been shown to produce flushing.

If this diagnosis is a possibility, the best approach is to order a 24-hour urine test for fractionated metanephrines and measurement of the serum calcitonin level, in addition to the stress echocardiogram already scheduled.

---- Yehia Y. Mishriki, MD
Professor of Clinical Medicine
Penn State University College of Medicine
Hershey, Pa

I agree completely with Dr Mishriki's comments. This may be an even better explanation of the patient's symptom constellation than what I had suggested.

---- William W. Briner, Jr, MD
Medical Director, Sports Medicine Center
Lutheran General Hospital
Park Ridge, Ill