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According to the National Caner Institute, screening for multiple endocrine neoplasia type 1 by imaging studies such as brain [[MRI]], abdominal [[CT]] and abdominal [[MRI]] are recommended every 3-5 year among patients with  [[pituitary tumor]]s and [[pancreatic neuroendocrine tumor]]s respectively. Biochemical tests such as serum [[prolactin]], [[insulin-like growth factor]] 1, fasting total serum [[calcium]], ionized [[calcium]], [[parathyroid hormone]], fasting serum [[gastrin]], [[chromogranin A]], pancreatic polypeptide, [[glucagon]] and [[vasointestinal polypeptide]] are recommended every year among patients with [[pituitary tumor]]s,  [[pancreatic neuroendocrine tumor]]s and  [[primary hyperparathyroidism]].
According to the National Caner Institute, screening for multiple endocrine neoplasia type 1 by imaging studies such as brain [[MRI]], abdominal [[CT]] and abdominal [[MRI]] are recommended every 3-5 year among patients with  [[pituitary tumor]]s and [[pancreatic neuroendocrine tumor]]s respectively. Biochemical tests such as serum [[prolactin]], [[insulin-like growth factor]] 1, fasting total serum [[calcium]], ionized [[calcium]], [[parathyroid hormone]], fasting serum [[gastrin]], [[chromogranin A]], pancreatic polypeptide, [[glucagon]] and [[vasointestinal polypeptide]] are recommended every year among patients with [[pituitary tumor]]s,  [[pancreatic neuroendocrine tumor]]s and  [[primary hyperparathyroidism]].
==Natural history, Complications and Prognosis==
==Natural history, Complications and Prognosis==
The manifestations of multiple endocrine neoplasia type 1 usually develop in the first/ second or third decade of life and the age at which multiple endocrine neoplasia type 1 can begin to cause symptoms can vary from one family member to another.  Depending on the extent of the [[tumor]] at the time of [[diagnosis]], the [[prognosis]] may vary.  However, the [[prognosis]] is generally regarded as good.
The manifestations of multiple endocrine neoplasia type 1 usually develop in the first/ second or third decade of life and the age at which multiple endocrine neoplasia type 1 can begin to cause symptoms is variable.  Depending on the extent of the [[tumor]] at the time of [[diagnosis]], the [[prognosis]] may vary.  However, the [[prognosis]] is generally regarded as good.


==History and Symptoms==
==History and Symptoms==

Revision as of 18:34, 18 September 2015

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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]

Overview

Multiple endocrine neoplasia type 1 (MEN-1 syndrome) or Wermer's syndrome is part of a group of disorders that affect the endocrine system through development of neoplastic lesions in the pituitary, the parathyroid gland and the pancreas. Multiple endocrine neoplasia type 1 was first described by Dr. Erdheim, a German physician, in 1903 by reporting a case of an acromegalic patient with pituitary adenoma and three enlarged parathyroid glands. Development of multiple endocrine neoplasia type 1 is the result of multiple genetic mutations of mainly MEN1 gene. The pathophysiology of multiple endocrine neoplasia type 1 depends on the histological subtype. Common risk factors in the development of multiple endocrine neoplasia type 1 are family history, history of Zollinger-Ellison syndrome and pituitary dysfunction. Biochemical tests and imaging techniques are used to screen for multiple endocrine neoplasia type 1. Symptoms of multiple endocrine neoplasia type 1 include lethargy, depression, oligomenorrhea, constipation, headache and diarrhea. MRI may be helpful in the diagnosis of multiple endocrine neoplasia type 1. Surgery is the mainstay of treatment for multiple endocrine neoplasia type 1.

Historical Perspective

Multiple endocrine neoplasia type 1 was first described by Dr. Erdheim, a German physician, in 1903 by reporting a case of an acromegalic patient with pituitary adenoma and three enlarged parathyroid glands.

Pathophysiology

Development of multiple endocrine neoplasia type 1 is the result of multiple genetic mutations. Gene involved in the pathogenesis of multiple endocrine neoplasia type 1 is MEN1 gene. The pathophysiology of multiple endocrine neoplasia type 1 depends on the histological subtype.

Causes

Multiple endocrine neoplasia type 1 is caused by a mutation in the MEN gene.

Differential Diagnosis

Multiple endocrine neoplasia type 1 must be differentiated from other hereditary diseases such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.

Epidemiology and Demographics

The prevalence of multiple endocrine neoplasia type 1 is approximately 2-3 per 100,000 individuals worldwide. Patients of all age groups may develop this disorder but are most commonly found in age group between 18-50 years. Multiple endocrine neoplasia type 1 affects men and women equally. There is no racial predilection to the multiple endocrine neoplasia type 1.

Risk Factors

Common risk factors in the development of multiple endocrine neoplasia type 1 are family history, history of Zollinger-Ellison syndrome and pituitary dysfunction.

Screening

According to the National Caner Institute, screening for multiple endocrine neoplasia type 1 by imaging studies such as brain MRI, abdominal CT and abdominal MRI are recommended every 3-5 year among patients with pituitary tumors and pancreatic neuroendocrine tumors respectively. Biochemical tests such as serum prolactin, insulin-like growth factor 1, fasting total serum calcium, ionized calcium, parathyroid hormone, fasting serum gastrin, chromogranin A, pancreatic polypeptide, glucagon and vasointestinal polypeptide are recommended every year among patients with pituitary tumors, pancreatic neuroendocrine tumors and primary hyperparathyroidism.

Natural history, Complications and Prognosis

The manifestations of multiple endocrine neoplasia type 1 usually develop in the first/ second or third decade of life and the age at which multiple endocrine neoplasia type 1 can begin to cause symptoms is variable. Depending on the extent of the tumor at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as good.

History and Symptoms

Symptoms of multiple endocrine neoplasia type 1 include lethargy, depression, oligomenorrhea, constipation, headache and diarrhea.

Physical Examination

Common physical examination findings of multiple endocrine neoplasia type 1 include rash, shortened QT interval, and clonus.

Laboratory Findings

Laboratory findings consistent with the diagnosis of multiple endocrine neoplasia type 1 include increased parathyroid hormone, increased gastrin, and increased cortisol.

Ultrasound

On ultrasound, multiple endocrine neoplasia type 1 is characterized by slow growing tumors and metastases.

CT

Abdominal CT scan may be helpful in the diagnosis of multiple endocrine neoplasia type 1.

MRI

MRI may be helpful in the diagnosis of multiple endocrine neoplasia type 1.

Other Imaging Findings

Other imaging studies for multiple endocrine neoplasia type 1 include fluoro-di-glucose-PET/CT, venous sampling, angiography and endovascular procedures, such as trans-arterial chemo-embolization (TACE).

Other Diagnostic Studies

Other diagnostic studies for multiple endocrine neoplasia type 1 include genetic testing, which demonstrates gene mutation in proband.

Medical Therapy

Pharmacologic medical therapies for multiple endocrine neoplasia type 1 include cabergoline, somatostatin analogues, and H2- receptor blockers.

Surgery

Surgery is the mainstay of treatment for multiple endocrine neoplasia type 1.

Future or Investigational therapies

Future or investigational therapies of multiple endocrine neoplasia type 1 include TRK inhibitors (tropomyosin receptor kinase inhibitors), mTOR inhibitors, thienopyrimidine analogs and molecular phenotyping.

Reference