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.
Introdução
O que você precisa saber de cara
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.
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.
Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.
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.
Clinicopathologic Findings in T-Cell Large Granular Lymphocytic Leukemia-Associated Gamma Heavy Chain Disease.
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.
Detection of monoclonal alpha heavy chains in the absence of other monoclonal proteins in a patient with a history of IgG-κ MGUS.
Gamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.
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
Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.
Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.
Detection of monoclonal alpha heavy chains in the absence of other monoclonal proteins in a patient with a history of IgG-κ MGUS.
Gamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.
Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.
📚 EuropePMC308 artigos no totalmostrando 76
Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.
Journal of clinical laboratory analysisGamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.
European journal of case reports in internal medicineDetection 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 chemistryGamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.
ImmunotherapyUncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.
Hematology reportsHeavy Chain Cast Nephropathy in a Gamma Heavy Chain Disease: RESPONSE to High-Dose Therapy Melphalan and Daratumumab.
Clinical lymphoma, myeloma & leukemiaClinicopathologic Findings in T-Cell Large Granular Lymphocytic Leukemia-Associated Gamma Heavy Chain Disease.
International journal of surgical pathologyImlifidase: a new interferent on serum protein electrophoresis looking as a rare plasma cell dyscrasia.
Clinical chemistry and laboratory medicineHeavy Chain Disease with Cystic Lung Disease Presenting as Recurrent Spontaneous Pneumothorax in a Young Adult.
Acta medica LituanicaA case of heavy-chain deposition disease with good long-term renal survival and a literature review.
BMC nephrologyGastrointestinal Alpha Heavy Chain Disease With Persistent Campylobacter Jejuni Colonization and Refractory Giardiasis.
ACG case reports journalPrimary adrenal insufficiency developed 22 years after the diagnosis of light and heavy chain deposition disease: a case report.
CEN case reportsClinicopathological Characteristics of Light and Heavy Chain Deposition Disease: A Case Series.
American journal of kidney diseases : the official journal of the National Kidney FoundationAn unfavorable and a successful pregnancy outcome during and after treatment of gamma heavy chain disease.
International journal of hematologyAbatacept as a Mimic of Gamma Heavy Chain Disease.
Clinical chemistryAtypical Migration in Serum Immunofixation of Immunoglobulin A with Masked kappa Light Chains: a Case Report and Review of the Literature.
Clinical laboratoryGamma heavy chain disease: a retrospective analysis of 6 cases.
Orphanet journal of rare diseasesGamma Heavy Chain Disease Associated with T-Cell Large Granular Lymphocyte Lymphoproliferative Disorder: Case Report and Literature Review.
Mediterranean journal of hematology and infectious diseasesAcquired cutis laxa from heavy chain deposition disease.
Kidney internationalMu heavy chain disease with MYD88 L265P mutation: an unusual manifestation of lymphoplasmacytic lymphoma.
Diagnostic pathologyHuge discrepancy between serum immunoglobulin concentration and proteinemia due to heavy chain disease.
Clinical biochemistryThe Evolution of Our Understanding of Immunoproliferative Small Intestinal Disease (IPSID) over Time.
Current oncology (Toronto, Ont.)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[Biological difficulties of a heavy chains disease diagnosis].
Annales de biologie cliniqueAssociation of IGHM polymorphisms with susceptibility to type 1 diabetes.
Immunologic researchImmunoglobulin A Heavy Chain Deposition Disease: A Case Report.
Iranian journal of kidney diseasesIleal mucosa-associated lymphoid tissue lymphoma diagnosed after emergency surgery: A case report and literature review.
Annals of medicine and surgery (2012)Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.
Annals of medicineGamma heavy chain disease associated with rheumatoid arthritis: a case report.
Journal of medical case reportsLight chain proteinuria revealing mu-heavy chain disease: an atypical presentation of Waldenström macroglobulinemia in two cases.
HaematologicaA novel immune prognostic index for stratification of high-risk patients with early breast cancer.
Scientific reportsGamma heavy chain disease complicated by pulmonary hypertension, which was successfully treated with lenalidomide.
BMJ case reports[Gamma heavy chain disease associated with aggressive B lymphoma in the context of myelodysplastic syndrome].
La Revue de medecine interneGamma-heavy chain disease.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiγ heavy chain disease presenting in a patient with systemic lupus erythematosus.
BloodHeavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders.
Clinical lymphoma, myeloma & leukemiaGamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature.
Clinical laboratory[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].
Revista peruana de medicina experimental y salud publicaIdentification of gamma heavy chain disease using MALDI-TOF mass spectrometry.
Clinical biochemistryGamma 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 : JCEHHeavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.
American journal of kidney diseases : the official journal of the National Kidney FoundationAutosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype.
Clinical immunology (Orlando, Fla.)Gamma-heavy chain monoclonal gammopathy with undetermined significance (MGUS).
Journal of clinical and experimental hematopathology : JCEHA Targeted Mass Spectrometry Strategy for Developing Proteomic Biomarkers: A Case Study of Epithelial Ovarian Cancer.
Molecular & cellular proteomics : MCPMonoclonal 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 TransplantationTwo Cases of γ-Heavy Chain Disease and a Review of the Literature.
Case reports in hematologyCutis laxa for diagnosis of γ1-heavy-chain deposition disease: Report of four cases.
The Journal of dermatologyComprehensive molecular characterization of a heavy chain deposition disease case.
HaematologicaMethotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis.
Pathology internationalInterpretation Difficulties of Serum Immunofixation Test in Immunoglobulin D Multiple Myeloma with Hidden Lambda Light Chains.
Clinical laboratoryIgA kappa light and heavy chain deposition disease in multiple myeloma.
British journal of haematologyWidespread intronic polyadenylation diversifies immune cell transcriptomes.
Nature communicationsGamma heavy-chain disease accompanied with follicular lymphoma: a case report.
Biochemia medicaDiffuse Small Bowel Thickening.
GastroenterologyHeavy Chain Disease of the Small Bowel.
Current gastroenterology reportsHeavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update.
Mediterranean journal of hematology and infectious diseasesGamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia.
Clinical chemistry and laboratory medicineAutosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.
Genes and immunityMorphologic features of μ-heavy-chain disease.
BloodLong-term renal survival of γ3-heavy chain deposition disease: a case report.
BMC nephrologyHeavy chain disease: our experience.
Clinical chemistry and laboratory medicineAbsence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.
The Journal of investigative dermatologyNew insights into the pathogenesis and treatment of heavy chain deposition disease.
Kidney internationalThe clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits.
Kidney internationalUnravelling the immunopathological mechanisms of heavy chain deposition disease with implications for clinical management.
Kidney internationalThe Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.
PloS oneT cell receptor rearrangements in a patient with γ-heavy chain disease: A case report.
Oncology lettersDiscovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder.
Annales de biologie cliniqueMultiple myeloma and multiple plasmacytomas associated with free gamma heavy chain, free kappa light chain and IgGk paraproteins: an unusual triple gammopathy.
Annals of clinical biochemistryAJKD Atlas of Renal Pathology: Heavy Chain Deposition Disease.
American journal of kidney diseases : the official journal of the National Kidney FoundationGamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature.
Internal medicine (Tokyo, Japan)[A case of light and heavy chain deposition disease].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesGamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature.
Hematology (Amsterdam, Netherlands)A mouse model recapitulating human monoclonal heavy chain deposition disease evidences the relevance of proteasome inhibitor therapy.
BloodA unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease.
Pediatric blood & cancerFranklin's disease: immunoglobulin heavy chain disease.
Stem cell investigationAssociações
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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.
- Novel Laboratory Approaches in Heavy Chain Disease With Discordant Immunoglobulin Quantitation: A Case Report and Literature Review.
- Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites.
- Clinicopathologic Findings in T-Cell Large Granular Lymphocytic Leukemia-Associated Gamma Heavy Chain Disease.
- Detection of monoclonal alpha heavy chains in the absence of other monoclonal proteins in a patient with a history of IgG-κ MGUS.
- Gamma heavy chain disease treated with daratumumab-based regimen: a first case report and review of literature.
- Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:86864(Orphanet)
- MONDO:0019464(MONDO)
- GARD:19074(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
