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Doenças de cadeias pesadas
ORPHA:86864CID-10 · C88.2CID-11 · 2A84DOENÇA RARA

As doenças das cadeias pesadas (HCDs) são doenças proliferativas de células linfoplasmáticas monoclonais raras que envolvem células B e são caracterizadas pela síntese de cadeias pesadas truncadas sem cadeias leves associadas.

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Introdução

O que você precisa saber de cara

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As doenças das cadeias pesadas (HCDs) são doenças proliferativas de células linfoplasmáticas monoclonais raras que envolvem células B e são caracterizadas pela síntese de cadeias pesadas truncadas sem cadeias leves associadas.

Publicações científicas
413 artigos
Último publicado: 2026 Mar 19

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C88.2
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Sinais e sintomas

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

Partes do corpo afetadas

🩸
Sangue
7 sintomas
🫃
Digestivo
5 sintomas
🦴
Ossos e articulações
3 sintomas
🫘
Rins
2 sintomas
🛡️
Imunológico
2 sintomas
🧬
Pele e cabelo
2 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

Nefropatia
Febre
Contagem anormal de linfócitos B
Hepatomegalia
Linfoma
Hipocalcemia
36sintomas
Sem dados (36)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

NefropatiaNephropathy
FebreFever
Contagem anormal de linfócitos BAbnormal B cell count
HepatomegaliaHepatomegaly
LinfomaLymphoma

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico413PubMed
Últimos 10 anos79publicações
Pico201811 papers
Linha do tempo
2026Hoje · 2026🧪 2000Primeiro ensaio clínico📈 2018Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doenças de cadeias pesadas

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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
50 papers (10 anos)
#1

Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.

Journal of clinical laboratory analysis2026 Mar 19

Heavy chain disease (HCD) is a rare plasma-cell neoplasm frequently linked to lymphoproliferative and autoimmune disorders. Clinical presentation varies widely, with no conventional signs or symptoms. The prognosis is frequently uncertain, and there is currently no typical diagnosis or treatment. Truncated immunoglobulins' heavy chains (HCs) identification and bound light chains (LCs) exclusion are diagnostic requirements. The initial approach is laboratory-based, mostly from protein analysis, as serum protein electrophoresis (SPE), immunotyping (IT), and immunofixation (IFE) are usually the first diagnostic steps. A panel of tests resulted in low serum protein, so SPE, IT, and IFE were conducted. The findings established a spike's presence and γ-HC isotype, but differential diagnosis from gammopathies with LCs' low reactivity to reagents required further testing. Consequently, a molecular weight separation gel and immunoselection were executed. SPE showed a 29.4% (12.9 g/L) spike central to the γ-fraction, while IT resulted in a subtraction in the IgG window, later verified by serum IFE. Immunoselection showed no LC-HC link, excluding a gammopathy with difficult LC identification. The molecular weight gel revealed a 160 kDa band. This rare case of HCD presents unique complexity, also due to discordant IgG3-IgG quantitation, associated angioimmunoblastic lymphoma morphology, and EBV genome. The aim is to draw attention to the difficulties in diagnosing HCD and stress the importance of both advanced methods and a proper laboratory approach. This is necessary to ensure prompt and effective care for a rare condition, particularly with complex presentations like this case.

#2

Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.

European journal of case reports in internal medicine2026

Gamma heavy-chain disease (gHCD) is a rare lymphoproliferative disorder characterised by the production of truncated gamma heavy chains that are not associated with light chains. We present the case of a 79-year-old man with a known history of chronic lymphocytic leukaemia who presented with acute confusion, hypercalcaemia and ascites. Workup revealed monoclonal gamma heavy chains in serum without corresponding light chains. Treatment with a combination of rituximab, bortezomib and prednisone resulted in complete remission, sustained over two years. This case highlights the diagnostic and therapeutic challenges of gHCD and underscores the importance of individualised management. Consider gamma heavy-chain disease in patients with unexplained monoclonal gammopathy and atypical presentations, such as hypercalcaemia and ascites.A combination of rituximab and chemotherapy shows an anti-tumour effect in gamma heavy-chain disease expressing CD20.

#3

Clinicopathologic Findings in T-Cell Large Granular Lymphocytic Leukemia-Associated Gamma Heavy Chain Disease.

International journal of surgical pathology2026 Feb

Heavy chain diseases comprise a rare heterogeneous group of B-cell lymphoproliferative disorders characterized by the production of a truncated monoclonal immunoglobulin heavy chain without an associated immunoglobulin light chain. Gamma heavy chain disease often resembles lymphoplasmacytic lymphoma clinically and histopathologically. Its diagnosis requires the demonstration of monoclonal heavy chains in the serum or urine. We present the clinical and pathologic history of a 69-year-old woman who was incidentally identified with a monotypic B-cell population during routine flow cytometry for her untreated T-cell large granular lymphocytic leukemia. Further workup was consistent with a diagnosis of gamma heavy chain disease.

#4

Detection of monoclonal alpha heavy chains in the absence of other monoclonal proteins in a patient with a history of IgG-κ MGUS.

Clinica chimica acta; international journal of clinical chemistry2026 Jan 15
#5

Gamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.

Immunotherapy2025 Aug

We report on the use of a daratumumab-CHOP regimen for treatment of gamma heavy chain disease (γHCD) in a 79-year-old woman. γHCD is a very rare hematological disease, often associated with an underlying lymphoproliferative disorder. Only a few cases are reported in the literature, and, therefore, strong evidence is lacking regarding new therapeutic strategies. We attempted a treatment with a monoclonal anti-CD38 antibody in association with conventional chemothorapy, due to CD38 expression by clonal cells. This is the first reported case in the literature, in a disease in which very few novel strategies have recently emerged. Gamma heavy chain disease (γHCD) is a very rare blood cancer that affects a type of white blood cell called B lymphocytes. In this disease, the body produces abnormal antibodies that lack part of their normal structure. Because it is so uncommon, there is no standard treatment, and very few cases have been reported. We describe the case of a 79-year-old woman diagnosed with γHCD. Her cancer cells were found to express a protein called CD38. Based on this, we chose to treat her with an immunotherapy called daratumumab, which specifically targets CD38, combined with standard chemotherapy. This combination led to a temporary improvement, with a reduction in the size of her tumors. Unfortunately, the disease came back quickly after treatment ended. It spread to her brain, a rare and serious complication. A brain biopsy confirmed that the lymphoma had transformed into a more aggressive form known as diffuse large B-cell lymphoma. This case is the first reported use of a daratumumab-based treatment in γHCD. It suggests that this type of therapy could be considered for future patients whose cancer cells express CD38. More research and shared experience are needed to guide treatment for this rare condition.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC308 artigos no totalmostrando 76

2026

Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.

Journal of clinical laboratory analysis
2026

Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.

European journal of case reports in internal medicine
2026

Detection of monoclonal alpha heavy chains in the absence of other monoclonal proteins in a patient with a history of IgG-κ MGUS.

Clinica chimica acta; international journal of clinical chemistry
2025

Gamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.

Immunotherapy
2025

Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.

Hematology reports
2025

Heavy Chain Cast Nephropathy in a Gamma Heavy Chain Disease: RESPONSE to High-Dose Therapy Melphalan and Daratumumab.

Clinical lymphoma, myeloma &amp; leukemia
2026

Clinicopathologic Findings in T-Cell Large Granular Lymphocytic Leukemia-Associated Gamma Heavy Chain Disease.

International journal of surgical pathology
2025

Imlifidase: a new interferent on serum protein electrophoresis looking as a rare plasma cell dyscrasia.

Clinical chemistry and laboratory medicine
2025

Heavy Chain Disease with Cystic Lung Disease Presenting as Recurrent Spontaneous Pneumothorax in a Young Adult.

Acta medica Lituanica
2024

A case of heavy-chain deposition disease with good long-term renal survival and a literature review.

BMC nephrology
2024

Gastrointestinal Alpha Heavy Chain Disease With Persistent Campylobacter Jejuni Colonization and Refractory Giardiasis.

ACG case reports journal
2024

Primary adrenal insufficiency developed 22 years after the diagnosis of light and heavy chain deposition disease: a case report.

CEN case reports
2024

Clinicopathological Characteristics of Light and Heavy Chain Deposition Disease: A Case Series.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2024

An unfavorable and a successful pregnancy outcome during and after treatment of gamma heavy chain disease.

International journal of hematology
2023

Abatacept as a Mimic of Gamma Heavy Chain Disease.

Clinical chemistry
2023

Atypical Migration in Serum Immunofixation of Immunoglobulin A with Masked kappa Light Chains: a Case Report and Review of the Literature.

Clinical laboratory
2023

Gamma heavy chain disease: a retrospective analysis of 6 cases.

Orphanet journal of rare diseases
2023

Gamma Heavy Chain Disease Associated with T-Cell Large Granular Lymphocyte Lymphoproliferative Disorder: Case Report and Literature Review.

Mediterranean journal of hematology and infectious diseases
2022

Acquired cutis laxa from heavy chain deposition disease.

Kidney international
2022

Mu heavy chain disease with MYD88 L265P mutation: an unusual manifestation of lymphoplasmacytic lymphoma.

Diagnostic pathology
2022

Huge discrepancy between serum immunoglobulin concentration and proteinemia due to heavy chain disease.

Clinical biochemistry
2022

The Evolution of Our Understanding of Immunoproliferative Small Intestinal Disease (IPSID) over Time.

Current oncology (Toronto, Ont.)
2022

Immunoglobulin heavy chain gene rearrangement in heavy chain deposition disease suggests it is a plasma cell disease: a case report.

The Journal of international medical research
2022

[Biological difficulties of a heavy chains disease diagnosis].

Annales de biologie clinique
2022

Association of IGHM polymorphisms with susceptibility to type 1 diabetes.

Immunologic research
2021

Immunoglobulin A Heavy Chain Deposition Disease: A Case Report.

Iranian journal of kidney diseases
2021

Ileal mucosa-associated lymphoid tissue lymphoma diagnosed after emergency surgery: A case report and literature review.

Annals of medicine and surgery (2012)
2021

Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.

Annals of medicine
2021

Gamma heavy chain disease associated with rheumatoid arthritis: a case report.

Journal of medical case reports
2021

Light chain proteinuria revealing mu-heavy chain disease: an atypical presentation of Waldenström macroglobulinemia in two cases.

Haematologica
2021

A novel immune prognostic index for stratification of high-risk patients with early breast cancer.

Scientific reports
2020

Gamma heavy chain disease complicated by pulmonary hypertension, which was successfully treated with lenalidomide.

BMJ case reports
2021

[Gamma heavy chain disease associated with aggressive B lymphoma in the context of myelodysplastic syndrome].

La Revue de medecine interne
2020

Gamma-heavy chain disease.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
2020

γ heavy chain disease presenting in a patient with systemic lupus erythematosus.

Blood
2020

Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders.

Clinical lymphoma, myeloma &amp; leukemia
2020

Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature.

Clinical laboratory
2019

[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].

Revista peruana de medicina experimental y salud publica
2020

Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry.

Clinical biochemistry
2019

Gamma heavy chain disease (γ-HCD) as iatrogenic immunodeficiency- associated lymphoproliferative disorder: Possible emergent subtype of rheumatoid arthritis-associated γ-HCD.

Journal of clinical and experimental hematopathology : JCEH
2020

Heavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2020

Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype.

Clinical immunology (Orlando, Fla.)
2019

Gamma-heavy chain monoclonal gammopathy with undetermined significance (MGUS).

Journal of clinical and experimental hematopathology : JCEH
2019

A Targeted Mass Spectrometry Strategy for Developing Proteomic Biomarkers: A Case Study of Epithelial Ovarian Cancer.

Molecular &amp; cellular proteomics : MCP
2019

Monoclonal gammopathy of renal significance with heavy-chain deposition disease in renal allograft: challenges in the diagnosis and management.

Transplant international : official journal of the European Society for Organ Transplantation
2018

Two Cases of γ-Heavy Chain Disease and a Review of the Literature.

Case reports in hematology
2018

Cutis laxa for diagnosis of γ1-heavy-chain deposition disease: Report of four cases.

The Journal of dermatology
2018

Comprehensive molecular characterization of a heavy chain deposition disease case.

Haematologica
2018

Methotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis.

Pathology international
2018

Interpretation Difficulties of Serum Immunofixation Test in Immunoglobulin D Multiple Myeloma with Hidden Lambda Light Chains.

Clinical laboratory
2018

IgA kappa light and heavy chain deposition disease in multiple myeloma.

British journal of haematology
2018

Widespread intronic polyadenylation diversifies immune cell transcriptomes.

Nature communications
2018

Gamma heavy-chain disease accompanied with follicular lymphoma: a case report.

Biochemia medica
2021

Diffuse Small Bowel Thickening.

Gastroenterology
2018

Heavy Chain Disease of the Small Bowel.

Current gastroenterology reports
2018

Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update.

Mediterranean journal of hematology and infectious diseases
2018

Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia.

Clinical chemistry and laboratory medicine
2017

Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.

Genes and immunity
2017

Morphologic features of μ-heavy-chain disease.

Blood
2017

Long-term renal survival of γ3-heavy chain deposition disease: a case report.

BMC nephrology
2017

Heavy chain disease: our experience.

Clinical chemistry and laboratory medicine
2017

Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.

The Journal of investigative dermatology
2017

New insights into the pathogenesis and treatment of heavy chain deposition disease.

Kidney international
2017

The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits.

Kidney international
2017

Unravelling the immunopathological mechanisms of heavy chain deposition disease with implications for clinical management.

Kidney international
2016

The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.

PloS one
2016

T cell receptor rearrangements in a patient with γ-heavy chain disease: A case report.

Oncology letters
2016

Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder.

Annales de biologie clinique
2016

Multiple myeloma and multiple plasmacytomas associated with free gamma heavy chain, free kappa light chain and IgGk paraproteins: an unusual triple gammopathy.

Annals of clinical biochemistry
2016

AJKD Atlas of Renal Pathology: Heavy Chain Deposition Disease.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2016

Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature.

Internal medicine (Tokyo, Japan)
2016

[A case of light and heavy chain deposition disease].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2016

Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature.

Hematology (Amsterdam, Netherlands)
2015

A mouse model recapitulating human monoclonal heavy chain deposition disease evidences the relevance of proteasome inhibitor therapy.

Blood
2015

A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease.

Pediatric blood &amp; cancer
2015

Franklin's disease: immunoglobulin heavy chain disease.

Stem cell investigation
Ver todos os 308 no EuropePMC

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.
    Journal of clinical laboratory analysis· 2026· PMID 41856916mais citado
  2. Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.
    European journal of case reports in internal medicine· 2026· PMID 41668820mais citado
  3. Clinicopathologic Findings in T-Cell Large Granular Lymphocytic Leukemia-Associated Gamma Heavy Chain Disease.
    International journal of surgical pathology· 2026· PMID 40611654mais citado
  4. Detection of monoclonal alpha heavy chains in the absence of other monoclonal proteins in a patient with a history of IgG-&#x3ba; MGUS.
    Clinica chimica acta; international journal of clinical chemistry· 2026· PMID 41062053mais citado
  5. Gamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.
    Immunotherapy· 2025· PMID 40838430mais citado
  6. Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.
    Hematol Rep· 2025· PMID 40700098recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:86864(Orphanet)
  2. MONDO:0019464(MONDO)
  3. GARD:19074(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q3281328(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

Doenças de cadeias pesadas
Compêndio · Raras BR

Doenças de cadeias pesadas

ORPHA:86864 · MONDO:0019464
Prevalência
Unknown
CID-10
C88.2 · Doença de cadeia pesada gama
CID-11
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0018852
EuropePMC
Wikidata
Papers 10a
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