Type 2 Multiple Endocrine Neoplasia Clinical Presentation
- Author: Melanie L Richards, MD; Chief Editor: George T Griffing, MD more...
The most important questions to ask relate to a family history of multiple endocrine neoplasms.
Patients may present with symptoms related to medullary thyroid carcinoma, hyperparathyroidism, or pheochromocytoma. However, clinical presentation is associated with the patient's age. A young patient with an identified RET proto-oncogene mutation will probably be asymptomatic. These patients generally have thyroid C-cell hyperplasia without progression to medullary carcinoma.
Virtually all index patients have medullary thyroid carcinoma at the time of diagnosis, although their clinical presentation may be consistent with pheochromocytoma or hyperparathyroidism.
Symptoms in type 2 multiple endocrine neoplasia (MEN 2) can include hypertension, episodic sweating, diarrhea, pruritic skin lesions, or compressive symptoms from a neck mass. Patients with hypercalcemia may present with constipation, polyuria, polydipsia, memory problems, depression, nephrolithiasis, glucose intolerance, gastroesophageal reflux, and fatigue, or they may have no symptoms. They may also lose bone density.
If pheochromocytomas develop, an increase in blood pressure and heart rate may be the only signs. These increases can be chronic or episodic. Some patients have episodes of sweating and headaches.
If a patient has medullary thyroid carcinoma, he or she may have a history of diarrhea from extensive disease. This may be related to elevated prostaglandin or calcitonin levels.
This constant finding in MEN 2B patients results from hyperplasia of the intrinsic autonomic ganglia in the intestinal wall. Infants may fail to thrive.
Pruritic skin lesions
Cutaneous lichen amyloidosis in MEN 2A patients manifests as multiple pruritic, hyperpigmented, lichenoid papules in the scapular area of the back. These lesions are associated with the deposition of altered cytokeratins rather than of calcitoninlike peptides.
The physical signs of MEN 2 are extremely variable and often subtle. A neck mass or a dominant thyroid nodule is discovered; anterior neck lymph nodes are nontender, arise insidiously with progressive enlargement, and may signify regional metastasis. Blood pressure and heart rate may be elevated if a pheochromocytoma is present.
The marfanoid habitus of high-arched palate, pectus excavatum, bilateral pes cavus, and scoliosis are observed in MEN 2B patients. Neuromas on the eyelids, conjunctiva, nasal and laryngeal mucosa, tongue, and lips are frequent findings. Patients also have prominent, hypertrophied lips leading to a characteristic facies. Localized pruritus appears over the upper back in MEN 2B patients.
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