Mastocytosis

Posted by Graham McMahon • March 25th, 2011

In this week’s Case Record of the Massachusetts General Hospital, A 37-year-old man was admitted to the hospital because of flushing and hypotension with near-syncope. Similar episodes had occurred with increasing frequency during the past 12 years. The symptoms were usually provoked by physical exertion, mental stress, or intense emotion, and lasted up to 12 hours.  The report includes videos of echocardiographic studies obtained for evaluation of persistent hypotension.

Flushing due to neurogenic stimuli is accompanied by sweating, because of autonomic innervation of the eccrine sweat glands. This process occurs with fever, exercise, heat exposure, and menopause. Vasodilator substances, in contrast, cause dry flushing.

Clinical Pearls

What endocrine tumors cause flushing?

Neuroendocrine tumors, including pheochromocytoma, vasoactive intestinal peptide-producing tumors, medullary thyroid carcinoma, and carcinoid tumors, may all secrete substances that cause flushing, hypotension or hypertension, diarrhea, and respiratory symptoms in various combinations.

What are the characteristics of the carcinoid syndrome?

The carcinoid syndrome is characterized by cutaneous flushing, diarrhea, wheezing, and cardiac valvular lesions. Episodes are often precipitated by the ingestion of alcohol and chocolates. Facial telangiectasia and cyanosis and pellagra-like skin changes may be seen in chronic cases.

Table 2. Causes of Vasodilator-Mediated Flushing Accompanied by Hypotension.

Morning Report Questions

Q: How is mastocytosis diagnosed?

A: Determination of the serum tryptase level is essential to establish the diagnosis of systemic mastocytosis and differentiate it from anaphylaxis.

Q: How is mastocytosis treated?

A: H1- and H2-histamine-receptor blockade (cetirizine, ranitidine); oral disodium cromoglycate, which blocks the release of mediators from mast cells; leukotriene-receptor blockade (montelukast); inhibition of PGD2 generation with acetylsalicylic acid; and a proton-pump inhibitor (omeprazole) are all used to treat systemic mastocytosis.

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