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Amiloidose

  • Обзор
  • Теория
  • Диагноз
  • Лечение
  • Последующее наблюдение
  • Источники
Последний просмотренный: 20 Aug 2025
Last updated: 05 Dec 2024

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

  • presença de fatores de risco
  • estase jugular
  • edema nos membros inferiores
  • história de gamopatia monoclonal de significado indeterminado (MGUS)
  • história de uma condição inflamatória crônica, infecção crônica, síndrome febril periódica hereditária
  • púrpura periorbital
  • petéquias palpebrais
  • macroglossia
Полная информация

Другие диагностические факторы

  • fadiga
  • perda de peso
  • dispneia ao esforço
  • neuropatia periférica
  • neuropatia autonômica
  • claudicação
  • náuseas ou vômitos
  • cólicas abdominais
  • hábito intestinal alternado
  • Esteatorreia
  • tontura
  • aumento da glândula salivar submandibular
  • hepatomegalia
  • ombros com aspecto de ombreira (sinal de "shoulder pad")
  • fraqueza muscular difusa
  • hipotensão ortostática
  • síndrome do túnel do carpo
  • distúrbios musculoesqueléticos
Полная информация

Факторы риска

  • gamopatia monoclonal de significado indeterminado (MGUS)
  • poliartropatia inflamatória
  • infecções crônicas
  • doença inflamatória intestinal
  • síndromes febris periódicas hereditárias
  • doença de Castleman
Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

  • eletroforese de proteínas e imunofixação no soro
  • eletroforese de proteínas e imunofixação na urina (usando coleta de urina de 24 horas)
  • ensaio de detecção de cadeias leves livres de imunoglobulina no soro
  • Hemograma completo com diferencial
  • esfregaço de sangue periférico
  • imunoglobulinas quantitativas séricas
  • eletroforese de proteínas séricas
  • perfil metabólico abrangente
  • eletroforese de proteínas urinárias (usando coleta de urina de 24 horas)
  • Proteína total na urina de 24 horas
  • avaliação de sinais vitais ortostáticos
  • biópsia tecidual
  • hibridização in situ fluorescente (FISH)
Полная информация

Исследования, проведение которых нужно рассмотреть

  • espectrometria de massa
  • microscopia imunoeletrônica
  • estudos imuno-histoquímicos
  • teste genético
  • cintilografia com amiloide sérico P (SAP)
  • troponina sérica I ou T
  • Fragmento N-terminal do peptídeo natriurético tipo B (NT-proPNB)
  • perfil lipídico
  • exames de coagulação
  • eletrocardiograma (ECG)
  • ecocardiografia (com Doppler tecidual e deformação longitudinal global)
  • ressonância nuclear magnética (RNM) cardíaca
  • cintilografia cardíaca
  • estudos de eletromiografia/condução nervosa
  • testes endócrinos
  • testes de função pulmonar
  • Tomografia computadorizada (TC)
  • tomografia por emissão de pósitrons com fluordesoxiglucose (FDG-PET)-CT
  • radiografia do esqueleto
  • ultrassonografia abdominal
  • exame de esvaziamento gástrico
  • endoscopia digestiva alta e baixa
  • Cintilografia com amiloide sérico P (SAP) marcado com 123I
Полная информация

Алгоритм лечения

Острый

amiloidose de cadeias leves de imunoglobulina (AL)

amiloidose secundária (AA) (não familiar)

síndromes febris periódicas hereditárias

amiloidose de transtirretina (TTR)

ПРОДОЛЖЕНИЕ

amiloidose do tipo AL refratária ou recidivada

Составители

Авторы

Morie A. Gertz, MD, MACP
Morie A. Gertz

Seidler Jr. Professor of Medicine

Consultant in Hematology

Chair Emeritus of the Department of Medicine

Mayo Distinguished Clinician

Mayo Clinic College of Medicine

Rochester

MN

Раскрытие информации

MAG has received personal fees from Ionis/Akcea, Alnylam, Prothena, Janssen, Annexon, Appellis, Amgen, Medscape, Physicians Education Resource, and Research to Practice; and grants and personal fees from Spectrum. MAG has received personal fees from AbbVie and Celgene for a Data Safety Monitoring board, and personal fees from Sanofi for workforce training. MAG has received speaker fees from Teva, Johnson & Johnson, Medscape, and DAVA Oncology; and advisory board fees from Pharmacyclics and Procalara. MAG has participated in the development of educational materials for the i3Health Educational Program development. MAG has received royalties from Springer Publishing. MAG has received grant funding from the Amyloidosis Foundation, International Waldenstrom's Macroglobulinemia Foundation, and National Cancer Institute (SPORE MM SPORE 5P50 CA186781-04). MAG has stock options in Attralus (formerly known as Aurora Bio). MAG is an author of references cited in this topic.

Рецензенты

Donna Reece, MD

Associate Professor of Medicine

Director

Program for Multiple Myeloma and Related Diseases

Princess Margaret Hospital

Toronto

Ontario

Canada

Раскрытие информации

DR has been reimbursed by Millennium Pharmaceuticals, Inc and Johnson & Johnson, the manufacturers of bortezomib, for attending several conferences, for speaking at educational meetings, and for consulting work. She has also been reimbursed by Celgene, the manufacturer of lenalidomide and thalidomide, for attending several symposia and serving as a speaker.

Jeffrey Zonder, MD

Assistant Professor of Medicine and Oncology

Division of Hematology/Oncology

Wayne State University School of Medicine

Barbara Ann Karmanos Cancer Institute

Detroit

MI

Раскрытие информации

JZ declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Список литературы

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Основные статьи

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: systemic light chain amyloidosis [internet publication].Полный текст

Wechalekar AD, Cibeira MT, Gibbs SD, et al. Guidelines for non-transplant chemotherapy for treatment of systemic AL amyloidosis: EHA-ISA working group. Amyloid. 2023 Mar;30(1):3-17.Полный текст  Аннотация

Sanchorawala V, Boccadoro M, Gertz M, et al. Guidelines for high dose chemotherapy and stem cell transplantation for systemic AL amyloidosis: EHA-ISA working group guidelines. Amyloid. 2022 Mar;29(1):1-7. Аннотация

Muchtar E, Dispenzieri A, Gertz MA, et al. Treatment of AL amyloidosis: Mayo stratification of myeloma and risk-adapted Ttherapy (mSMART) consensus statement 2020 update. Mayo Clin Proc. 2021 Jun;96(6):1546-77.Полный текст  Аннотация

Adams D, Suhr OB, Hund E, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016 Feb;29(suppl 1):S14-26.Полный текст  Аннотация

Статьи, указанные как источники

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