Multiple endocrine neoplasia type 2 history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Diagnosis

The current clinical criterea for detecting Multiple endocrine neoplasia type 2 is as follows:

Clinical criterea for diagnosis of Multiple endocrine neoplasia type 2
2 or more specific endocrine tumors (medullary carcinoma, pheochromocytoma or parathyroid hyperplasia)
Familial medullary thyroid carcinoma is diagnosed in families with four or more cases of medullary thryoid cacrinoma without pheochromocytoma and parathyroid adenoma
Multiple endocrine neoplasia type 2b is diagnosed if there is early onset of medullary throid carcinoma, mucosal neuromas of lips and tongue, disctinctive facial features with enlarged lips and marfanoid body habitus}}

Symptoms

Multiple endocrine neoplasia type 2b

The most common clinical features of MEN2B are:

• Tall, thin, "marfanoid" body build, in which long bones are disproportionately elongated
• Masses beneath mucosal surfaces in the mouth, lips, and eyes. Numerous yellowish-white, sessile, painless nodules on the lips or tongue, with deeper lesions having normal coloration. There may be enough neuromas in the body of the lips to produce enlargement and a "blubbery lip" appearance. Similar nodules may be seen on the sclera and eyelids.
• Low muscle mass, sometimes with myopathy
• Gastrointestinal complaints, especially constipation
• A nodule, lump, or swelling in the neck
• Pain in the front of the neck
• Hoarseness or other voice changes
• Trouble swallowing
• Breathing problems
• Continuous cough
• Palpitations
• Anxiety often resembling that of a panic attack
• Diaphoresis
• Headaches
• Pallor
• Weight loss
• Craniosynostosis
• Dry eyes or lack of tears, which is an especially helpful sign in children
• Delayed puberty