Multiple endocrine neoplasia type 1 overview
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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 pituitary, parathyroid gland and 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. Genes involved in the pathogenesis of multiple endocrine neoplasia type 1 is mainly 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 diseases that cause neurological symptoms 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. 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 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.
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.