A hemoglobinúria paroxística ao frio (HCP) é um subtipo muito raro de anemia hemolítica autoimune (AIHA), causada pela presença de autoanticorpos que reagem ao frio no sangue e caracterizada pela presença súbita de hemoglobinúria, normalmente após exposição a temperaturas frias.
Introdução
O que você precisa saber de cara
A hemoglobinúria paroxística ao frio (HCP) é um subtipo muito raro de anemia hemolítica autoimune (AIHA), causada pela presença de autoanticorpos que reagem ao frio no sangue e caracterizada pela presença súbita de hemoglobinúria, normalmente após exposição a temperaturas frias.
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
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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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
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)
🇧🇷 Atendimento SUS — Hemoglobinúria paroxística pelo frio
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
Autoimmune hemolytic anemia (AIHA) with an isolated C3d+ direct antiglobulin test is a rare and understudied condition in children. It typically encompasses cold agglutinin syndrome and paroxysmal cold hemoglobinuria, both transient, infection-triggered disorders collectively referred to as cold AIHA. We report a national cohort of 142 pediatric patients with isolated C3d+ AIHA, representing 21.6% of all childhood AIHA cases enrolled in the French OBS'CEREVANCE cohort over a 32-year period. The median age at diagnosis was 3.2 years (male-to-female ratio, 1.3), and median follow-up was 2.8 years. Infectious symptoms were present in 63.4% of cases. At diagnosis, median hemoglobin was 6.4 g/dL; 69.7% of patients had inadequate reticulocytosis (bone marrow responsiveness index of <121), and 90.4% required transfusions. Eighteen patients (12.7%) had or developed immunopathological manifestations (IM) including 5 diagnosed with primary immunodeficiency (4 with autoimmune lymphoproliferative syndrome). Among 8 (5.6%) patients with relapsing disease, 6 had no IM at diagnosis but 4 developed IM at relapse. Nine patients were antinuclear antibodies (ANA) positive; none progressed to systemic lupus over a median follow-up of 4.9 years. Corticosteroids were administered to 82.4% of patients (median duration, 4.5 months), with no clear benefit over untreated patients regarding hospital stay or transfusion needs. No deaths were reported. In conclusion, pediatric isolated C3d+ AIHA generally follows a favorable course. However, a minority of patients may reveal underlying immune disorders, highlighting the importance of tailored evaluation at diagnosis. Cold agglutinin testing with thermal amplitude and Donath-Landsteiner testing, rarely performed in this cohort, warrant further study for their impact on diagnosis and clinical management.
Timely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.
Donath-Landsteiner (DL) antibodies are immunoglobulins formed in response to a viral, bacterial, or spirochete infection and are capable of inducing paroxysmal cold hemoglobinuria (PCH), an autoimmune hemolytic anemia. In the past, PCH was most commonly associated with syphilitic infections; however, now, it is more frequently seen in children secondary to upper respiratory infections and DL test is the diagnostic test. We report a case of a 4-year-old male presented with a sudden drop in hemoglobin and hematuria with a 2-week history of fever and upper respiratory tract infection who was subsequently diagnosed as PCH with the help of DL Test.
Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.
We report the case of an 86-year-old male with chronic anemia who presented with indirect hyperbilirubinemia, undetectable haptoglobin, and reticulocytosis. The peripheral smear showed no schistocytes. The cold-agglutinin titer was mildly positive, and the Donath-Landsteiner antibody test was positive. Bone marrow biopsy revealed a small CD5⁺ B-cell clone consistent with monoclonal B-cell lymphocytosis (MBL). The patient was diagnosed with paroxysmal cold hemoglobinuria (PCH) associated with MBL and treated with rituximab, achieving clinical stability without transfusion requirement. This case illustrates a rare coexistence of PCH and MBL in an elderly patient and emphasizes the importance of comprehensive hematologic evaluation for unexplained chronic hemolysis.
Management of autoimmune hemolytic anemia.
Autoimmune hemolytic anemia (AIHA) is caused by premature erythrocyte destruction mediated by autoantibodies (auto-Ab) with or without complement activation. The most frequent form (60%-70% of cases) is warm AIHA (wAIHA), driven by immunoglobulin G auto-Ab that react at body temperature. Cold agglutinin disease (CAD, 20%-25%) is the second most common form and is caused by immunoglobulin M auto-Ab that usually react at temperatures <20°C and strongly activate complement. Rarer forms (5%-10%) include mixed AIHAs (wAIHA plus CAD), and paroxysmal cold hemoglobinuria. Here, we present the management of wAIHA, as CAD is discussed separately. Approximately 50% of wAIHA are primary, whereas the remainder are secondary to various conditions (infections, lymphoproliferative disorders, systemic or organ-specific autoimmune diseases, congenital immunodeficiencies, hematopoietic stem-cell transplantation, and several drugs, including immune checkpoint inhibitors). The disease is highly heterogeneous, ranging from fully compensated to life-threatening, and frequently has a relapsing course. Standard first-line therapy includes steroids with or without intravenous immunoglobulin, transfusions when anemia is clinically significant, prophylactic anticoagulation for severe hemolysis, and recombinant erythropoietin when reticulocytopenia/inadequate bone marrow compensation is present. For severe cases, high-dose steroids and plasma-exchange may be considered. Rituximab is now the preferred second-line option for relapsed/refractory patients, comparing favorably with the traditional splenectomy. The latter is increasingly reserved for later lines together with classic immunosuppressants. Several novel treatments are in development for refractory wAIHA, encompassing drugs targeting B-cells (parsaclisib, ibrutinib, rilzabrutinib, zanubrutinib, obexelimab, ianalumab, povetacicept), plasma cells (bortezomib, daratumumab), spleen tyrosine kinase (fostamatinib, sovleplenib), and the neonatal Fc receptor (nipocalimab).
Hemolytic Anemia Linked to Epstein-Barr Virus Infectious Mononucleosis: A Systematic Review of the Literature.
Background: In Epstein-Barr virus infectious mononucleosis, hemolytic anemia occasionally occurs. Methods: To characterize hemolytic anemia linked to Epstein-Barr virus infectious mononucleosis, we performed a systematic review (PROSPERO CRD42024597183) in the United States National Library of Medicine, Excerpta Medica, and Web of Science with no restrictions on language. Only reports published since 1970 were included. Eligible were reports describing hemolytic anemia in subjects with clinical signs and microbiological markers of Epstein-Barr virus mononucleosis. Results: In the literature, we detected 56 reports released between 1973 and 2024, documenting 60 individuals (32 females and 28 males; 27 children and 33 adults) with hemolytic anemia linked to Epstein-Barr virus infectious mononucleosis. The mechanism underlying anemia was categorized as cold-antibody-mediated (N = 31; 52%), warm-antibody-mediated (N = 18, 30%), mixed warm- and cold-antibody-mediated (N = 4; 6.7%), or paroxysmal cold hemoglobinuria (N = 2; 3.3%). The remaining 5 cases (8.3%) remained unclassified. Observation alone was the chosen approach in 23% of cases (N = 14). Steroids (67%; N = 40) and blood transfusions (38%; N = 23) were the most commonly used treatment, while plasma exchange, intravenous polyclonal immunoglobulin, rituximab, and splenectomy were used less frequently. Observation was slightly but significantly (p = 0.032) more common in cases of cold-antibody-mediated anemia compared to all other cases combined. Patients recovered a median of 28 [interquartile range 21-39] days after disease onset. Two patients with warm-antibody-mediated hemolytic anemia died. Conclusions: This literature review points out that Epstein-Barr virus, like Mycoplasma pneumoniae, cytomegalovirus, or severe acute respiratory syndrome coronavirus 2, may act as a trigger for immune-mediated hemolytic anemia.
Publicações recentes
Complement-Mediated Hemolytic Anemia Triggered by Adenovirus Infection in a Pediatric Patient.
Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.
Management of autoimmune hemolytic anemia.
Timely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.
Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
📚 EuropePMC139 artigos no totalmostrando 62
Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.
CureusManagement of autoimmune hemolytic anemia.
Hematology. American Society of Hematology. Education ProgramTimely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.
Asian journal of transfusion scienceChildhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
Blood advancesHemolytic Anemia Linked to Epstein-Barr Virus Infectious Mononucleosis: A Systematic Review of the Literature.
Journal of clinical medicineThe Vital Role of Immunohematology in Diagnosing Paroxysmal Cold Hemoglobinuria: A Clinical Case Report.
CureusParoxysmal Cold Hemoglobinuria: Mild to Catastrophic-Spectrum of a Rare Hemolytic Anemia of Childhood.
Journal of pediatric hematology/oncologyAdult-onset severe paroxysmal cold hemoglobinuria after COVID-19 successfully treated with sutimlimab.
International journal of hematologyLife-Threatening Recurrence of Paroxysmal Cold Hemoglobinuria in a Child During Influenza A Infection.
Turkish archives of pediatricsA method for selecting P antigen-negative red cell units for patients with paroxysmal cold hemoglobinuria.
Asian journal of transfusion scienceCold-antibody Autoimmune Hemolytic Anemia: its Association with Neoplastic Disease and Impact on Therapy.
Current oncology reportsChallenges in the diagnosis and management of autoimmune hemolytic anemia: A case-based approach. Experience from a tertiary care hospital in the Haryana region.
Indian journal of pathology & microbiologyAutoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.
International journal of molecular sciencesA case of paroxysmal cold hemoglobinuria complicated by latent syphilis.
Oxford medical case reportsHow the United States syphilis epidemic may portend a resurgence of an unusual hematologic condition: The connection between syphilis and paroxysmal cold hemoglobinuria.
American journal of hematologyChallenges in recognising paroxysmal cold hemoglobinuria.
Transfusion medicine (Oxford, England)Adenovirus-associated Paroxysmal Cold Hemoglobinuria as Chilly Month Hemolytic Crisis.
The Pediatric infectious disease journalSuccessful Treatment of Warm Autoimmune Hemolytic Anemia with a Positive Donath-Landsteiner Test Using Rituximab.
Internal medicine (Tokyo, Japan)Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria.
Journal of pediatric hematology/oncologyA single center experience for clinical evaluation of paroxysmal cold hemoglobinuria and Donath-Landsteiner testing.
TransfusionParoxysmal cold hemoglobinuria: A diagnostic dilemma in a paediatric patient.
Transfusion medicine (Oxford, England)Epstein-Barr Virus-induced Paroxysmal Cold Hemoglobinuria in a 17-Year-old Male.
Journal of pediatric hematology/oncologyPeripheral erythrophagocytosis in paroxysmal cold hemoglobinuria.
BloodClinical and epidemiological features of paroxysmal cold hemoglobinuria: a systematic review.
Blood advances[Advances in understanding the pathogenesis and treatment of autoimmune hemolytic anemia].
[Rinsho ketsueki] The Japanese journal of clinical hematologyAdult paroxysmal cold hemoglobinuria following mRNA COVID-19 vaccination.
EJHaemA Case of Childhood Severe Paroxysmal Cold Hemoglobinuria with Acute Renal Failure Successfully Treated with Plasma Exchange and Eculizumab.
Case reports in pediatricsAutoimmune Hemolytic Anemia in Children: Laboratory Investigation, Disease Associations, and Treatment Strategies.
Journal of pediatric hematology/oncologyParoxysmal Cold Hemoglobinuria: Diagnosis From the Blood Smear.
Journal of pediatric hematology/oncologyA Case of Paroxysmal Cold Hemoglobinuria Possessing Moderate Paroxysmal Nocturnal Hemoglobinuria-Type Erythrocytes.
The American journal of case reportsParoxysmal cold hemoglobinuria in children - An under-recognized entity!
Indian journal of pathology & microbiologyErythrophagocytosis in a young adult with mycoplasma pneumonia-induced paroxysmal cold hemoglobinuria.
BloodClinical Profile and Outcome of Childhood Autoimmune Hemolytic Anemia: A Single Center Study.
Indian pediatricsAutoimmune Hemolytic Anemia in the Pediatric Setting.
Journal of clinical medicineA Rare Case of Parvovirus B19 Infection Induced Paroxysmal Cold Hemoglobinuria in an Adult Female.
CureusAutoimmune hemolytic anemia: current knowledge and perspectives.
Immunity & ageing : I & AApplying Donath-Landsteiner test for the diagnosis of paroxysmal cold hemoglobinuria.
Asian journal of transfusion scienceA rare case report of autoimmune haemolytic anemia in a female child due to a Donath-Landsteiner antibody.
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguineParoxysmal cold hemoglobinuria: a unique constellation of peripheral smear findings.
BloodParoxysmal cold hemoglobinuria successfully treated with complement inhibition.
Blood advancesParoxysmal Cold Hemoglobinuria in a 4-year-old Child.
Indian pediatricsNovel insights into the treatment of complement-mediated hemolytic anemias.
Therapeutic advances in hematologyDefining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.
Blood advancesParoxysmal Cold Hemoglobinuria in an Adult with Respiratory Syncytial Virus.
Case reports in hematology[Autoimmune hemolytic anemia].
Vnitrni lekarstviComplement Activation and Inhibition in Autoimmune Hemolytic Anemia: Focus on Cold Agglutinin Disease.
Seminars in hematologyParoxysmal cold hemoglobinuria with acute renal failure.
BloodMicroangiopathy and acute kidney injury in paroxysmal cold hemoglobinuria: A challenge for management.
American journal of hematologyInflammatory Breast Cancer and Warm Antibody Autoimmune Hemolytic Anemia: A Rare Paraneoplastic Syndrome.
Journal of investigative medicine high impact case reportsKids, colds, and complement: paroxysmal cold hemoglobinuria.
TransfusionRecurrent Donath-Landsteiner hemolytic anemia: a pediatric case report.
TransfusionSevere Neutropenia After Leukocytosis During an Acute Attack of Mycoplasma Infection-associated Paroxysmal Cold Hemoglobinuria.
Journal of pediatric hematology/oncologyImmune Hemolytic Anemia (Paroxysmal Cold Hemoglobinuria) Preceding Burkitt Lymphoma in a 12-Year-Old Child.
Journal of pediatric hematology/oncologyParoxysmal cold hemoglobinuria: a difficult diagnosis in adult patients.
TransfusionLong-term follow-up of non-syphilitic paroxysmal cold hemoglobinuria in an adult.
Annals of hematologyParoxysmal cold hemoglobinuria in a child with RSV: an underrecognized cause of hemolytic anemia.
The American journal of emergency medicineRole of Complement in Autoimmune Hemolytic Anemia.
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie[Autoimmune hemolytic anemia in children].
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguineParoxysmal cold hemoglobinuria due to an IgA Donath-Landsteiner antibody.
Pediatric blood & cancerParoxysmal cold hemoglobinuria.
Hematology/oncology clinics of North AmericaRed blood cell destruction in autoimmune hemolytic anemia: role of complement and potential new targets for therapy.
BioMed research internationalCase report: paroxysmal cold hemoglobinuria presenting during pregnancy.
BMC hematologyAssociações
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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.
- Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
- Timely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.
- Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.
- Management of autoimmune hemolytic anemia.
- Hemolytic Anemia Linked to Epstein-Barr Virus Infectious Mononucleosis: A Systematic Review of the Literature.
- Complement-Mediated Hemolytic Anemia Triggered by Adenovirus Infection in a Pediatric Patient.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:90035(Orphanet)
- MONDO:0019533(MONDO)
- GARD:7335(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q734042(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
