Type 2 Multiple Endocrine Neoplasia Clinical Presentation

  • Author: Melanie L Richards, MD, MPHE; Chief Editor: George T Griffing, MD   more...
 
Updated: Apr 30, 2012
 

History

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.

Hypertension

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.

Diarrhea

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.

Chronic constipation

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.[7] These lesions are associated with the deposition of altered cytokeratins rather than of calcitoninlike peptides.

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Physical Examination

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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Contributor Information and Disclosures
Author

Melanie L Richards, MD, MPHE  Associate Professor, Department of Surgery, Mayo Clinic

Melanie L Richards, MD, MPHE is a member of the following medical societies: American Association of Endocrine Surgeons, American College of Surgeons, International Association of Endocrine Surgeons, Southwestern Surgical Congress, and Western Surgical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Suzanne M Carter, MS  Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine

Suzanne M Carter, MS is a member of the following medical societies: American Bar Association

Disclosure: Nothing to disclose.

Susan J Gross, MD, FRCS(C), FACOG, FACMG  Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine

Susan J Gross, MD, FRCS(C), FACOG, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Obstetricians and Gynecologists, American Institute of Ultrasound in Medicine, American Medical Association, American Society of Human Genetics, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD  Professor of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

Additional Contributors

Ruth Freeman, MD, Director of Menopause Research and Treatment Center, Professor, Departments of Medicine and Obstetrics and Gynecology, Montefiore Medical Center, Albert Einstein College of Medicine

Ruth Freeman, MD is a member of the following medical societies: American College of Clinical Endocrinologists

Disclosure: Nothing to disclose.

Romesh Khardori, MD, PhD Professor and Director, Division of Endocrinology, Metabolism, and Molecular Medicine, Southern Illinois University School of Medicine

Romesh Khardori, MD, PhD is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Medical Association, American Society of Andrology, Endocrine Society, and Illinois State Medical Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

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