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ABC Medical Center > Wermer syndrome

What is Wermer syndrome?

21:56 - 4 May , 2021

Disease

It is a rare hereditary pathology that affects the development of the endocrine glands and generally produces benign tumors in the parathyroid, stomach, pituitary, small intestine, and pancreas, which causes high concentrations of hormones that can trigger other health problems such as the formation of kidney stones or serious ulcers.

Wermer syndrome, also known as multiple endocrine neoplasia type 1, is the result of a genetic mutation in the nuclear protein called menin, whose functionality is still unknown, but which is known to have tumor-suppressing effects.

Signs and symptoms Wermer syndrome

The symptoms will depend on the glands affected as a result of an excessive release of hormones in the body, but usually include the following:

  • Heartburn.
  • Kidney stones.
  • Changes in vision or nerve function that do not go away.
  • Fatigue.
  • Diarrhea.
  • Abdominal pain.
  • Aching bones.
  • Headache.
  • Bone fractures.
  • Nausea.
  • Vomit.
  • Lack of appetite.
  • Decreased body weight.
  • Bloody stools.
  • Emotional disorders (anxiety, anger, sadness).
  • Peptic ulcers.

Diagnosis and treatment Wermer syndrome

Once the doctor analyzes the symptoms and clinical history, they will perform a physical examination and request the following tests to rule out other pathologies and confirm the diagnosis, such as:

Blood tests.
Endoscopic ultrasound of the pancreas and other organs.
Nuclear medicine examinations.
MRI.
Computed tomography.
Positron emission tomography.

Treatment will depend on the size and location of the tumor but usually includes surgery.

It is advisable to perform prenatal genetic testing with a specialist if you have a family history with a genetic mutation of Wermer syndrome or multiple endocrine neoplasia type 1.

Although Wermer syndrome has no cure, ongoing medical testing will help detect serious problems and better control the disease.

At ABC Medical Center’s Internal Medicine Department, we offer health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies of both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • stjude.org
  • cancer.net
  • revistasanitariadeinvestigacion.com
  • mayoclinic.org
  • msdmanuals.com
  • middlesexhealth.org
  • medlineplus.gov
  • medigraphic.com
  • Domínguez-Gasca LG, Mora-Constantino J, Arellano-Aguilar G, et al. Neoplasias endocrinas múltiples tipo 1: síndrome de Wermer. Acta Med. 2014;12(4):221-222.

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