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Multiple endocrine neoplasia syndromes

Última revisão: 22 Sep 2025
Última atualização: 20 May 2025

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • young age (MEN1/2)
  • positive family history (MEN1/2)
  • episodic triad of sweating, palpitations, and headache (MEN2)
  • clinical features of kidney stones (MEN1/2)
  • facial angiofibromas or collagenomas (MEN1)
  • mucosal neuromas (MEN2B)
  • arm span and upper-to-lower-body-segment ratio (MEN2B)
  • palpable thyroid nodule (MEN2)
  • irregular menses (MEN1)
  • visual changes (MEN1)
  • unexplained flushing (MEN2)
  • infertility (MEN1)
  • clinical features of acromegaly (MEN1)
  • clinical features of thyrotoxicosis (MEN1)
Detalhes completos

Outros fatores diagnósticos

  • weight changes (MEN1/2)
  • hypertension (MEN1/2)
  • abdominal pain (MEN1/2)
  • headache (MEN1/2)
  • low-trauma fractures (MEN1)
  • altered bowel habit (MEN1/2)
  • palpitations (MEN1/2)
  • easy bruising (MEN1/2)
  • slow wound healing (MEN1/2)
  • erectile dysfunction (MEN1)
  • clinical features of hypercortisolism/Cushing syndrome (MEN1/2)
  • anxiety (MEN1/2)
  • heat intolerance (MEN1)
  • confusion (MEN1/2)
  • dehydration (MEN1/2)
  • gastrointestinal bleeding (MEN2)
  • hepatomegaly (MEN2)
Detalhes completos

Fatores de risco

  • familial cases of MEN
  • RET proto-oncogene mutation
  • MEN1 (menin) mutation
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • serum calcitonin (MEN2)
  • serum carcinoembryonic antigen (MEN2)
  • plasma metanephrines (MEN2)
  • serum parathyroid hormone and calcium (MEN1/2)
  • fasting serum gastrin (MEN1)
  • serum chromogranin A (MEN1)
  • serum prolactin (MEN1)
  • insulin-like growth factor-1 (MEN1)
  • 24-hour urine metanephrines and catecholamines (MEN2)
  • 24-hour urine calcium (MEN1/2)
  • thyroid biopsy (MEN2)
Detalhes completos

Tests to avoid

  • plasma catecholamines
Detalhes completos

Investigações a serem consideradas

  • fasting serum glucose/insulin (MEN1)
  • serum C peptide (MEN1)
  • calcium-stimulated gastrin (MEN1)
  • serum proinsulin (MEN1)
  • serum pancreatic polypeptide (MEN1)
  • serum glucagon (MEN1)
  • T4 (free thyroxine) (MEN1)
  • thyroid-stimulating hormone (TSH) (MEN1)
  • dexamethasone suppression test (MEN1/2)
  • urine sulfonylurea (MEN1/2)
  • metaiodobenzylguanidine scintiscan (MIBG) (MEN2)
  • 18F-fluorodihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET)/CT abdomen and pelvis (MEN2)
  • octreotide scan (MEN1)
  • gallium-68 DOTATATE PET/CT abdomen and pelvis (MEN1 and 2)
  • technetium 99 sestamibi scintiscan (MEN1/2)
  • abdominal CT (MEN1/2)
  • abdominal MRI (MEN1/2)
  • chest CT or MRI (MEN1)
  • pituitary MRI (MEN1)
  • endoscopic ultrasonography (MEN1)
  • upper gastrointestinal endoscopy (MEN1)
  • Helicobacter pylori breath test, biopsy, or stool antigen test (MEN1/2)
  • genetic testing
Detalhes completos

Algoritmo de tratamento

Inicial

family history of MEN2

CONTÍNUA

MEN1

MEN2

Colaboradores

Autores

Rebecca Gorrigan, BSc, MBChB (hons), MRCP

Consultant Physician and Endocrinologist

Department of Endocrinology

Barts and the London NHS Trust and Queen Mary University of London

London

UK

Declarações

RG declares that she has no competing interests.

Maralyn Druce, MA, MRCP, PhD

Professor of Endocrine Medicine

Department of Endocrinology

Barts and the London Medical School

London

UK

Declarações

MD has received fees for consulting from Ipsen and Novartis; their products are used in the treatment of neuroendocrine tumors. Neuroendocrine tumors of the pancreas are features of MEN1. The topic does not discuss specific therapies for features of the condition.

Agradecimentos

Dr Rebecca Gorrigan and Professor Maralyn Druce would like to gratefully acknowledge Dr Jennifer Mammen and Dr Roberto Salvatori, previous contributors to this topic.

Declarações

JM and RS declare that they have no competing interests.

Revisores

Michael Levine, MD, FAAP, FACP

Director

Division of Endocrinology and Diabetes

The Children's Hospital of Philadelphia

Philadelphia

PA

Declarações

ML declares that he has no competing interests.

Salvatore Corsello, MD

Associate Professor of Endocrinology

Catholic University School of Medicine

Rome

Italy

Declarações

SC declares that he has no competing interests.

Créditos aos pareceristas

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As afiliações e declarações dos pareceristas referem--se ao momento da revisão.

Referências

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Principais artigos

Thakker RV, Newey PJ, Walls GV, et al; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011.Texto completo  Resumo

Wells SA Jr, Pacini F, Robinson BG, et al. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. 2013 Aug;98(8):3149–64.Texto completo  Resumo

Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610.Texto completo  Resumo

Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-24.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Diagnósticos diferenciais

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  • Diretrizes

    • NCCN clinical practice guidelines in oncology: neuroendocrine and adrenal tumors
    • Systemic therapy for tumor control in metastatic well-differentiated gastroenteropancreatic neuroendocrine tumors
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