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Amiloidose localizada primária
ORPHA:314709CID-10 · E85.4CID-11 · 5D00.0DOENÇA RARA

Amiloidose é um grupo de doenças caracterizadas pela acumulação nos tecidos de depósitos de proteínas mal agregadas, denominados fibrilas amilóides. Os sintomas dependem do tipo e são geralmente variáveis. Os sintomas mais comuns são diarreia, perda de peso, cansaço, aumento de volume da língua, hemorragias, perda de sensibilidade, sensação de desmaio ao estar em pé, inchaço das pernas ou aumento de volume do baço.

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Introdução

O que você precisa saber de cara

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Doença rara caracterizada pelo depósito localizado de amiloide em um único órgão ou tecido, sem envolvimento sistêmico. Manifesta-se clinicamente dependendo do local afetado, podendo causar disfunção orgânica progressiva.

Publicações científicas
125 artigos
Último publicado: 2025 Jan 1
🏥
SUS: Cobertura mínimaScore: 20%
1 medicamentos CEAFCID-10: E85.4
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico125PubMed
Últimos 10 anos17publicações
Pico20153 papers
Linha do tempo
2025Hoje · 2026🧪 2007Primeiro ensaio clínico📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

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Tratamento e manejo

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2Fase 21
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
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Publicações mais relevantes

Timeline de publicações
17 papers (10 anos)
#1

A serious warning: A case report on localized amyloidosis of the oral cavity.

Indian journal of pathology & microbiology2025 Jan 01

Amyloidosis is a relatively rare condition with an array of complex pathophysiology. Localized amyloidosis is a rare and benign condition that practically never results in any clinical repercussions in the head and neck area. Multiple soft nodules of the tongue, lip, and cheek are the most commonly described defining characteristics of localized oral amyloidosis. These nodules originate due to the proliferation of abnormally folded protein aggregates in the body's extracellular tissue compartments, which destroy organ structure and function. Herein, we address the case of a female infant aged one with a smooth nodule in the labial mucosa who was diagnosed with primary localized amyloidosis. When a patient is diagnosed with amyloidosis of the oral mucosa, the possibility of systemic amyloidosis or an underlying plasma cell dyscrasia must be ruled out. Surgical treatment may be beneficial for eliminating any functional impairment if primary localized amyloidosis is established.

#2

Amyloidosis Localized to the Sinonasal Tract: From the Diagnosis to Management of Disease.

Cureus2023 Jan

Amyloidosis is a mainly systemic rare disease and its localized presentation is even less frequent. Systemic forms are often associated with other conditions or entities (such as neoplasms), and a correct etiological study of patients with this disease is essential. A localized presentation has a better prognosis compared to systemic forms, which underlines the importance of a correct diagnosis. Primary localized amyloidosis in the head and neck region is a rare entity. Primary amyloidosis localized to the sinonasal tract is extremely rare. Although uncommon, case reports have been increasing in the face of new endoscopic and imaging techniques, and the report of these cases is crucial for a better characterization of this entity. Symptoms may include epistaxis, nasal obstruction, facial deformity, and vision changes. A 72-year-old female with a history of frequent nasal congestion with two years' duration showed no improvement following symptom management. She was referred for nasal endoscopy and biopsy, thereby confirming the diagnosis of amyloidosis. Further diagnostic testing did not show evidence of systemic disease. This case report was previously presented as a poster presentation at the 19th European Congress of Internal Medicine in March 2021.

#3

The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review.

Lasers in medical science2022 Mar

With the investigation of the efficacy of laser therapy in primary localized amyloidosis(PLCA) only recently starting to materialize, we aimed to review the currently available studies of laser therapy in the management of the disease. We searched PubMed, Scopus, Embase, Web of Science, Cochrane, and ProQuest online databases with a specified search strategy, assessed the quality of each study, and then extracted the eligible data. Five RCTs(randomized controlled trials), one non-randomized controlled trial, three case series, and nine case reports(18 in total) were included. Overall, carbon dioxide (CO2), neodymium-doped:yttrium aluminum garnet (Nd:YAG), pulsed dye (PDL), Er (Erbium):YAG, and yttrium/erbium fiber were the studied lasers. One hundred fifty-five cases in total underwent laser therapy, with CO2 being the most frequent laser. Almost all studies demonstrated significantly desirable outcomes, while only mild and transient side effects were noted. Even though the studies' results were significant, we noticed that implementing a consistent methodology and a standardized objective assessment method was missing. Therefore, we recommend that future studies be conducted with less heterogeneous data for a more definite conclusion.

#4

Primary Localized Amyloidosis of Larynx: A Case Report.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India2022 Dec

Primary localized laryngeal amyloidosis is a rare presentation of amyloid deposition. A case of 22 years old male presented with progressive hoarseness of voice and supraglottic mass on laryngoscopy reported here. Complete excision of mass was done using Coblator wand. Histopathological examination and Congo red stain demonstrated AL amyloidosis of Larynx.

#5

Primary localized amyloidosis of the ureter with osseous metaplasia presenting as a suspicious ureteral mass.

Urology case reports2022 Mar

Primary amyloidosis of the ureter is a rare disease that is difficult to distinguish from urothelial carcinoma. Only 50 cases of primary ureter amyloidosis have been reported since it was first described in 1937. Of these, only five cases of ureter amyloidosis with osseous metaplasia were reported. In this study, we report the clinical presentation of ureter primary amyloidosis that presented as a mass with osseous metaplasia. The aim of this study is to provide clinicians with knowledge about the clinical/radiologic manifestation that raise the suspicion of amyloidosis, bearing in mind the importance of differentiating it from other "malignant" processes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC78 artigos no totalmostrando 17

2025

A serious warning: A case report on localized amyloidosis of the oral cavity.

Indian journal of pathology & microbiology
2023

Amyloidosis Localized to the Sinonasal Tract: From the Diagnosis to Management of Disease.

Cureus
2022

Primary Localized Amyloidosis of Larynx: A Case Report.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2022

Primary localized amyloidosis of the ureter with osseous metaplasia presenting as a suspicious ureteral mass.

Urology case reports
2022

The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review.

Lasers in medical science
2021

Primary localized amyloidosis causing urethral stricture disease: a mimicker of urothelial carcinoma.

Journal of surgical case reports
2020

Primary Localized Amyloidosis of the Intestine: A Pathologist Viewpoint.

Gastroenterology research
2021

Primary Amyloidosis of the Genitourinary Tract.

Archives of pathology & laboratory medicine
2020

Primary localized amyloidosis of the uterine cervix during pregnancy.

The journal of obstetrics and gynaecology research
2020

Primary localized amyloidosis of the stomach mimicking healing gastric ulcer.

Gastrointestinal endoscopy
2017

Sclerosing thymoma-like thymic amyloidoma with nephrotic syndrome: a case report.

Journal of medical case reports
2017

Primary amyloidosis of the bladder; a mimicker of bladder cancer.

The Canadian journal of urology
2016

Intensity-modulated radiotherapy for localized nasopharyngeal amyloidosis : Case report and literature review.

Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]
2016

Sinonasal Globular Amyloidosis Simulating Malignancy: A Rare Presentation.

Head and neck pathology
2015

Multifocal primary amyloidosis of the airways: Case report and review of the literature.

Respiratory medicine case reports
2015

Nephrology image/primary localized amyloidosis of the ureter.

Kidney international
2015

Oral primary localized amyloidosis in HIV-infected patients: the oral face of a described skin lesion.

International journal of STD & AIDS
Ver todos os 78 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. A serious warning: A case report on localized amyloidosis of the oral cavity.
    Indian journal of pathology & microbiology· 2025· PMID 38427769mais citado
  2. Amyloidosis Localized to the Sinonasal Tract: From the Diagnosis to Management of Disease.
    Cureus· 2023· PMID 36756007mais citado
  3. The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review.
    Lasers in medical science· 2022· PMID 34611800mais citado
  4. Primary Localized Amyloidosis of Larynx: A Case Report.
    Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India· 2022· PMID 36742508mais citado
  5. Primary localized amyloidosis of the ureter with osseous metaplasia presenting as a suspicious ureteral mass.
    Urology case reports· 2022· PMID 34950565mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:314709(Orphanet)
  2. MONDO:0017817(MONDO)
  3. GARD:21387(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55787414(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Amiloidose localizada primária
Compêndio · Raras BR

Amiloidose localizada primária

ORPHA:314709 · MONDO:0017817
🇧🇷 Brasil SUS
CEAF
1ATafamidis
Geral
CID-10
E85.4 · Amiloidose limitada a órgãos
CID-11
MedGen
UMLS
C5679901
EuropePMC
Wikidata
Papers 10a
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