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Hemoglobinúria paroxística pelo frio
ORPHA:90035CID-10 · D59.6CID-11 · 3A20.3DOENÇA RARA

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.

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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.

Publicações científicas
190 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 5%
Triagem neonatal (Fase 5)CID-10: D59.6
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🩸
Sangue
2 sintomas
🫃
Digestivo
2 sintomas
🫘
Rins
1 sintomas
🫁
Pulmão
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Coloração urinária anormal
Muito frequente (99-80%)
90%prev.
Anemia hemolítica Coombs-positiva
Muito frequente (99-80%)
90%prev.
Infecções respiratórias recorrentes
Muito frequente (99-80%)
90%prev.
Hemoglobinúria
Muito frequente (99-80%)
90%prev.
Anemia hemolítica autoimune
Muito frequente (99-80%)
90%prev.
Febre
Muito frequente (99-80%)
11sintomas
Muito frequente (9)
Ocasional (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Coloração urinária anormalAbnormal urinary color
Muito frequente (99-80%)90%
Anemia hemolítica Coombs-positivaCoombs-positive hemolytic anemia
Muito frequente (99-80%)90%
Infecções respiratórias recorrentesRecurrent respiratory infections
Muito frequente (99-80%)90%
HemoglobinúriaHemoglobinuria
Muito frequente (99-80%)90%
Anemia hemolítica autoimuneAutoimmune hemolytic anemia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico190PubMed
Últimos 10 anos63publicações
Pico202413 papers
Linha do tempo
2026Hoje · 2026🧪 2017Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Hemoglobinúria paroxística pelo frio

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

2 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
66 papers (10 anos)
#1

Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.

Blood advances2026 Jan 27

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.

#2

Timely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.

Asian journal of transfusion science2025

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.

#3

Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.

Cureus2025 Nov

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.

#4

Management of autoimmune hemolytic anemia.

Hematology. American Society of Hematology. Education Program2025 Dec 05

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).

#5

Hemolytic Anemia Linked to Epstein-Barr Virus Infectious Mononucleosis: A Systematic Review of the Literature.

Journal of clinical medicine2025 Feb 15

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

Ver todas no PubMed

📚 EuropePMC139 artigos no totalmostrando 62

2025

Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.

Cureus
2025

Management of autoimmune hemolytic anemia.

Hematology. American Society of Hematology. Education Program
2025

Timely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.

Asian journal of transfusion science
2026

Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.

Blood advances
2025

Hemolytic Anemia Linked to Epstein-Barr Virus Infectious Mononucleosis: A Systematic Review of the Literature.

Journal of clinical medicine
2024

The Vital Role of Immunohematology in Diagnosing Paroxysmal Cold Hemoglobinuria: A Clinical Case Report.

Cureus
2024

Paroxysmal Cold Hemoglobinuria: Mild to Catastrophic-Spectrum of a Rare Hemolytic Anemia of Childhood.

Journal of pediatric hematology/oncology
2024

Adult-onset severe paroxysmal cold hemoglobinuria after COVID-19 successfully treated with sutimlimab.

International journal of hematology
2024

Life-Threatening Recurrence of Paroxysmal Cold Hemoglobinuria in a Child During Influenza A Infection.

Turkish archives of pediatrics
2024

A method for selecting P antigen-negative red cell units for patients with paroxysmal cold hemoglobinuria.

Asian journal of transfusion science
2024

Cold-antibody Autoimmune Hemolytic Anemia: its Association with Neoplastic Disease and Impact on Therapy.

Current oncology reports
2024

Challenges 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 &amp; microbiology
2024

Autoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.

International journal of molecular sciences
2024

A case of paroxysmal cold hemoglobinuria complicated by latent syphilis.

Oxford medical case reports
2024

How 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 hematology
2024

Challenges in recognising paroxysmal cold hemoglobinuria.

Transfusion medicine (Oxford, England)
2024

Adenovirus-associated Paroxysmal Cold Hemoglobinuria as Chilly Month Hemolytic Crisis.

The Pediatric infectious disease journal
2024

Successful Treatment of Warm Autoimmune Hemolytic Anemia with a Positive Donath-Landsteiner Test Using Rituximab.

Internal medicine (Tokyo, Japan)
2023

Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria.

Journal of pediatric hematology/oncology
2023

A single center experience for clinical evaluation of paroxysmal cold hemoglobinuria and Donath-Landsteiner testing.

Transfusion
2023

Paroxysmal cold hemoglobinuria: A diagnostic dilemma in a paediatric patient.

Transfusion medicine (Oxford, England)
2023

Epstein-Barr Virus-induced Paroxysmal Cold Hemoglobinuria in a 17-Year-old Male.

Journal of pediatric hematology/oncology
2023

Peripheral erythrophagocytosis in paroxysmal cold hemoglobinuria.

Blood
2023

Clinical and epidemiological features of paroxysmal cold hemoglobinuria: a systematic review.

Blood advances
2022

[Advances in understanding the pathogenesis and treatment of autoimmune hemolytic anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2022

Adult paroxysmal cold hemoglobinuria following mRNA COVID-19 vaccination.

EJHaem
2022

A Case of Childhood Severe Paroxysmal Cold Hemoglobinuria with Acute Renal Failure Successfully Treated with Plasma Exchange and Eculizumab.

Case reports in pediatrics
2022

Autoimmune Hemolytic Anemia in Children: Laboratory Investigation, Disease Associations, and Treatment Strategies.

Journal of pediatric hematology/oncology
2022

Paroxysmal Cold Hemoglobinuria: Diagnosis From the Blood Smear.

Journal of pediatric hematology/oncology
2021

A Case of Paroxysmal Cold Hemoglobinuria Possessing Moderate Paroxysmal Nocturnal Hemoglobinuria-Type Erythrocytes.

The American journal of case reports
2021

Paroxysmal cold hemoglobinuria in children - An under-recognized entity!

Indian journal of pathology &amp; microbiology
2021

Erythrophagocytosis in a young adult with mycoplasma pneumonia-induced paroxysmal cold hemoglobinuria.

Blood
2021

Clinical Profile and Outcome of Childhood Autoimmune Hemolytic Anemia: A Single Center Study.

Indian pediatrics
2021

Autoimmune Hemolytic Anemia in the Pediatric Setting.

Journal of clinical medicine
2020

A Rare Case of Parvovirus B19 Infection Induced Paroxysmal Cold Hemoglobinuria in an Adult Female.

Cureus
2020

Autoimmune hemolytic anemia: current knowledge and perspectives.

Immunity &amp; ageing : I &amp; A
2020

Applying Donath-Landsteiner test for the diagnosis of paroxysmal cold hemoglobinuria.

Asian journal of transfusion science
2020

A 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 sanguine
2020

Paroxysmal cold hemoglobinuria: a unique constellation of peripheral smear findings.

Blood
2019

Paroxysmal cold hemoglobinuria successfully treated with complement inhibition.

Blood advances
2019

Paroxysmal Cold Hemoglobinuria in a 4-year-old Child.

Indian pediatrics
2019

Novel insights into the treatment of complement-mediated hemolytic anemias.

Therapeutic advances in hematology
2019

Defining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.

Blood advances
2018

Paroxysmal Cold Hemoglobinuria in an Adult with Respiratory Syncytial Virus.

Case reports in hematology
2018

[Autoimmune hemolytic anemia].

Vnitrni lekarstvi
2018

Complement Activation and Inhibition in Autoimmune Hemolytic Anemia: Focus on Cold Agglutinin Disease.

Seminars in hematology
2018

Paroxysmal cold hemoglobinuria with acute renal failure.

Blood
2018

Microangiopathy and acute kidney injury in paroxysmal cold hemoglobinuria: A challenge for management.

American journal of hematology
2017

Inflammatory Breast Cancer and Warm Antibody Autoimmune Hemolytic Anemia: A Rare Paraneoplastic Syndrome.

Journal of investigative medicine high impact case reports
2017

Kids, colds, and complement: paroxysmal cold hemoglobinuria.

Transfusion
2017

Recurrent Donath-Landsteiner hemolytic anemia: a pediatric case report.

Transfusion
2017

Severe Neutropenia After Leukocytosis During an Acute Attack of Mycoplasma Infection-associated Paroxysmal Cold Hemoglobinuria.

Journal of pediatric hematology/oncology
2017

Immune Hemolytic Anemia (Paroxysmal Cold Hemoglobinuria) Preceding Burkitt Lymphoma in a 12-Year-Old Child.

Journal of pediatric hematology/oncology
2017

Paroxysmal cold hemoglobinuria: a difficult diagnosis in adult patients.

Transfusion
2016

Long-term follow-up of non-syphilitic paroxysmal cold hemoglobinuria in an adult.

Annals of hematology
2016

Paroxysmal cold hemoglobinuria in a child with RSV: an underrecognized cause of hemolytic anemia.

The American journal of emergency medicine
2015

Role of Complement in Autoimmune Hemolytic Anemia.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2015

[Autoimmune hemolytic anemia in children].

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine
2015

Paroxysmal cold hemoglobinuria due to an IgA Donath-Landsteiner antibody.

Pediatric blood &amp; cancer
2015

Paroxysmal cold hemoglobinuria.

Hematology/oncology clinics of North America
2015

Red blood cell destruction in autoimmune hemolytic anemia: role of complement and potential new targets for therapy.

BioMed research international
2015

Case report: paroxysmal cold hemoglobinuria presenting during pregnancy.

BMC hematology
Ver todos os 139 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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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. Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
    Blood advances· 2026· PMID 41118608mais citado
  2. Timely diagnosis of a case of Paroxysmal Cold Haemoglobinuria using Donath-Landsteiner test.
    Asian journal of transfusion science· 2025· PMID 41244167mais citado
  3. Paroxysmal Cold Hemoglobinuria Associated With Monoclonal B-Cell Lymphocytosis in an Elderly Patient: A Report of a Rare Case.
    Cureus· 2025· PMID 41473635mais citado
  4. Management of autoimmune hemolytic anemia.
    Hematology. American Society of Hematology. Education Program· 2025· PMID 41347987mais citado
  5. Hemolytic Anemia Linked to Epstein-Barr Virus Infectious Mononucleosis: A Systematic Review of the Literature.
    Journal of clinical medicine· 2025· PMID 40004813mais citado
  6. Complement-Mediated Hemolytic Anemia Triggered by Adenovirus Infection in a Pediatric Patient.
    Cureus· 2026· PMID 41909291recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:90035(Orphanet)
  2. MONDO:0019533(MONDO)
  3. GARD:7335(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Hemoglobinúria paroxística pelo frio
Compêndio · Raras BR

Hemoglobinúria paroxística pelo frio

ORPHA:90035 · MONDO:0019533
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
1-9 / 1 000 000
Herança
Multigenic/multifactorial
CID-10
D59.6 · Hemoglobinúria devida à hemólise por outras causas externas
CID-11
Início
Childhood
Prevalência
0.0 (Europe)
MedGen
UMLS
C0086774
EuropePMC
Wikidata
Papers 10a
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