Diagnosis
Diagnosis is suspected when a patient with family history of two of the three classical tumors (medullary thyroid cancer, pheochromocytoma, parathyroid adenoma) or MEN2 presents with one of the classical tumors. It is confirmed by genetic testing for mutation in RET gene. Differences in presentation
As noted, all types of MEN2 include pheochromocytoma and medullary thyroid carcinoma. MEN2A is additionally characterized by the presence of parathyroid hyperplasia. MEN2B is additionally characterized by the presence of mucocutaneous neuroma, gastrointestinal symptoms (e.g. constipation and flatulence), and muscular hypotonia. MEN2B can present with a Marfanoid habitus. Classification
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop. A table in the multiple endocrine neoplasia article compares the various MEN syndromes. MEN2 and MEN1 are distinct conditions, despite their similar names. MEN2 includes MEN2A, MEN2B and familial medullary thyroid cancer (FMTC).The common feature among the three sub-types of MEN2 is a high propensity to develop medullary thyroid carcinoma. A variant of MEAs 2A was described in 1989. This variant also has patches of cutaneous amyloidosis in the mid/upper back and is inherited in an autosomal dominant fashion. Management
Management of MEN2 patients includes thyroidectomy including cervical central and bilateral lymph nodes dissection for MTC, unilateral adrenalectomy for unilateral pheochromocytoma or bilateral adrenalectomy when both glands are involved and selective resection of pathologic parathyroid glands for primary hyperparathyroidism.
It has been found to be beneficial for the treatment of navicular syndrome, laminitis, and osteoarthritis, in some cases having a more profound effect than the commonly used NSAID phenylbutazone. However, due to cost, it is not routinely used in practice. Toxicity due to excessive dosage is similar to that of phenylbutazone, including depression, anorexia, weight loss, edema, diarrhea, oral ulceration, and decreased hematocrit. == References ==