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)
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)
Fatores de risco
- familial cases of MEN
- RET proto-oncogene mutation
- MEN1 (menin) mutation
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)
Tests to avoid
- plasma catecholamines
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
Algoritmo de tratamento
family history of MEN2
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
Os tópicos do BMJ Best Practice são constantemente atualizados, seguindo os desenvolvimentos das evidências e das diretrizes. Os pareceristas aqui listados revisaram o conteúdo pelo menos uma vez durante a história do tópico.
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As afiliações e declarações dos pareceristas referem--se ao momento da revisão.
Referências
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.
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