Forma rara de hipertensão arterial pulmonar (HAP) caracterizada por infiltração capilar do interstício pulmonar, bronquíolos e pleura, levando a resistência arterial pulmonar elevada e insuficiência cardíaca direita. PCH é potencialmente fatal.
Introdução
O que você precisa saber de cara
Forma rara de hipertensão arterial pulmonar (HAP) caracterizada por infiltração capilar do interstício pulmonar, bronquíolos e pleura, levando a resistência arterial pulmonar elevada e insuficiência cardíaca direita. PCH é potencialmente fatal.
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
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 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
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability (PubMed:25329545, PubMed:32610081). Plays a role as an activator of the integrated stress response (ISR) required for adaptation to amino acid starvation (By similarity). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha into a global protein synthesis inhibitor, leading to a
Cytoplasm
Pulmonary venoocclusive disease 2, autosomal recessive
A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension.
Variantes genéticas (ClinVar)
108 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 106 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
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 — Hemangiomatose pulmonar capilar
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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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Circulating microRNAs in pulmonary arterial hypertension: biomarkers for diagnosis, prognostic stratification, and treatment.
Pulmonary arterial hypertension (PAH) is a rare and progressive and life-threatening clinical condition characterized by elevated mean pulmonary arterial pressure (mPAP ≥ 20 mmHg at rest), increased pulmonary vascular resistance (PVR ≥ 2 Wood units), and normal pulmonary arterial wedge pressure. PAH group 1 comprises idiopathic, heritable, and drug- or toxin-induced forms, as well as cases associated with connective tissue diseases, HIV infection, portal hypertension, congenital heart disease, schistosomiasis, persistent pulmonary hypertension of the newborn, and pulmonary veno-occlusive disease (PVOD)/pulmonary capillary hemangiomatosis. The diagnosis of PAH is frequently delayed, and clinical outcomes remain poor in a significant proportion of patients, although several targeted therapies, acting on the endothelin (ET-1), nitric oxide (NO), and prostacyclin pathways, have been developed, and novel agents (i.e., sotatercept) are showing promising results in clinical trials. Circulating microRNAs (miRNAs) have emerged as promising biomarker candidates for risk stratification and prediction of therapeutic response in PAH group 1. These small non-coding RNAs that regulate gene expression at the post-transcriptional level are released into the circulation either actively, via extracellular vesicles such as exosomes and microvesicles, or passively as a result of cell damage. These features confer remarkable stability in biological fluids, making circulating miRNAs particularly attractive not only as innocent bystanders but also as factors actively involved in the pathogenesis of the disease. The aim of this review is to provide an overview of the role of circulating miRNAs in PAH group 1, with a focus on their diagnostic, prognostic, and therapeutic potential.
Solitary Pulmonary Capillary Hemangioma: Recognition, Clinicopathological Characteristics, and Recent Advances.
Solitary pulmonary capillary hemangioma (SPCH) is a rare, benign nodular lesion composed of proliferating capillaries in the lung. While pulmonary capillary hemangiomatosis-characterized by diffuse or patchy capillary proliferation in the lung leading to pulmonary hypertension and eventually fatal outcomes-has been recognized since 1978, the concept of solitary capillary hemangioma of the lung began to emerge in 2000 and has been increasingly recognized through subsequent reports. SPCH typically presents as a solitary nodule < 20 mm in diameter, often appearing as a ground-glass nodule on computed tomography. These features can closely mimic early-stage lung adenocarcinoma, posing a diagnostic challenge. In addition, SPCH is often difficult to palpate during surgery, which occasionally complicates intraoperative management. This review outlines the historical background of SPCH and summarizes its clinicoradiological, surgical (including intraoperative diagnosis), pathological (gross appearance and histopathological findings), and molecular characteristics. In particular, a literature review of previous studies, together with our own cases, highlights its distinguishing clinicoradiological features. Furthermore, SPCH is discussed in the broader context of pulmonary vascular tumors, and future directions for research and clinical practice are proposed.
Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder whose clinical phenotype overlaps with that of Marfan syndrome (MFS) and vascular Ehlers-Danlos syndrome (vEDS), including aortic and/or arterial aneurysms, skeletal abnormalities, and spontaneous pneumothorax. Although the pathological features of MFS- and vEDS-associated pulmonary lesions have been described, the pulmonary pathology of LDS remains virtually unknown. Herein, we report the detailed histopathological features of LDS-associated pulmonary vascular abnormalities and pneumothorax. A 32-year-old Japanese woman underwent pulmonary surgery for spontaneous pneumothorax. She had undergone aortic valve surgery 7 years earlier, and genetic testing identified a heterozygous germline missense variant in TGFBR2 (c.1150 A > C, p.Asn384His). Histologically, the resected lung showed a ruptured bulla/bleb. Localized distal acinar emphysema was present in continuity with the bullous lesion. In the remaining parenchyma, the alveolar septa exhibited a distinctive proliferation of irregularly dilated and tortuous capillaries, reminiscent of pulmonary capillary hemangiomatosis. Hemosiderin-laden macrophages were conspicuous in some air spaces. In addition, several pulmonary muscular arteries and veins showed irregular dilatation and tortuosity, with elastic fibers that were fragmented and disorganized. Aberrant TGF-β signaling, together with deranged matrix formation, may underlie both the dilated, tortuous vasculature and the emphysematous/bullous changes leading to pneumothorax in the LDS lung.
Integrated Stress Response (ISR) Modulators in Vascular Diseases.
Vascular dysfunction lies at the core of cardiovascular diseases-the leading cause of global morbidity and mortality. Despite their prevalence, therapeutic options remain limited, in part due to an incomplete understanding of the molecular mechanisms driving vascular pathology. The integrated stress response (ISR), an evolutionarily conserved signaling network activated by diverse stressors, represents a critical but underexplored mechanism in vascular biology. This review examines the dual roles of the core ISR kinases-PERK, GCN2, HRI and PKR-in vascular homeostasis and pathology, including atherosclerosis, pulmonary hypertension, and angiogenesis. We develop a conceptual framework in which the ISR functions as a context-dependent, double-edged sword: while PERK and PKR promote inflammation, apoptosis, and vascular re-modeling, GCN2 mediates protective effects. The outcome of ISR activation is shaped by cell type, stress duration and intensity, and downstream signaling bias (e.g., ATF4 vs. CHOP dominance). We further discuss pharmacological ISR modulators-including 2-aminopurine, C16, salubrinal, halofuginone, GSK2606414, and GSK2656157-which have demonstrated beneficial effects in preclinical models by suppressing inflammation, reducing apoptosis, and attenuating disease progression. Collectively, the ISR emerges as a critical regulatory node in vascular pathophysiology, and its selective, context-aware modulation represents a promising avenue for therapeutic intervention.
Pathology of Pulmonary Vascular Disease with Radiologic Correlation.
Pulmonary hypertensive changes are commonly seen by the surgical pathologist, but the majority represents secondary changes due to some process extrinsic to the lung. Some primary, or idiopathic, vascular diseases result in unique pathologic changes including the plexiform lesion and venous hypertensive changes. Thromboembolic disease also shows unique pathologic features. Diffuse alveolar hemorrhage, vasculitis, and capillaritis often overlap, but may represent separate, distinct pathologic processes. Lastly, alveolar capillary dysplasia with misalignment of pulmonary veins, as well as chronic lung allograft vasculopathy, present as unique pathologies in the neonate and posttransplant recipient, respectively.
Publicações recentes
Solitary Pulmonary Capillary Hemangioma: Recognition, Clinicopathological Characteristics, and Recent Advances.
Circulating microRNAs in pulmonary arterial hypertension: biomarkers for diagnosis, prognostic stratification, and treatment.
Integrated Stress Response (ISR) Modulators in Vascular Diseases.
Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Pathology of Pulmonary Vascular Disease with Radiologic Correlation.
📚 EuropePMC112 artigos no totalmostrando 81
Solitary Pulmonary Capillary Hemangioma: Recognition, Clinicopathological Characteristics, and Recent Advances.
Pathology internationalCirculating microRNAs in pulmonary arterial hypertension: biomarkers for diagnosis, prognostic stratification, and treatment.
GeroScienceIntegrated Stress Response (ISR) Modulators in Vascular Diseases.
CellsPulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Pathology internationalPathology of Pulmonary Vascular Disease with Radiologic Correlation.
Radiologic clinics of North AmericaSynchrotron-Based Phase-Contrast Micro-CT Combined With Histology to Decipher Differences Between Hereditary and Sporadic Pediatric Pulmonary Veno-Occlusive Disease.
Pulmonary circulation[Pulmonary capillary hemangiomatosis: a case report].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesPulmonary Capillary Hemangiomatosis as a Rare Underlying Cause of Primary Pulmonary Hypertension: A Case Report in an Adolescent.
Iranian journal of medical sciencesRetrospective analysis of dogs and cats with a mixed form of pulmonary hypertension and suspected pulmonary capillary hemangiomatosis in comparison to animals with predomination of precapillary pulmonary hypertension.
Open veterinary journalPulmonary Arterial Hypertension with Features of Venous Involvement: A Detective's Task.
Arquivos brasileiros de cardiologiaPulmonary capillary hemangiomatosis/veno-occlusive disease diagnosed by transbronchial cryobiopsy.
PulmonologyBilateral lung transplantation for pediatric pulmonary arterial hypertension: perioperative management and one-year follow-up.
Frontiers in cardiovascular medicineDifferential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.
Molecular syndromologyLarge Vessel Vasculitis in a Young Woman with EIF2AK4-associated Pulmonary Capillary Hemangiomatosis/Pulmonary Veno-Occlusive Disease.
American journal of respiratory and critical care medicineClinical and Hemodynamic Responses to Imatinib in Pulmonary Veno-Occlusive Disease/Pulmonary Capillary Hemangiomatosis: A Retrospective Pilot Study of Five Cases and Review of the Literature.
American journal of cardiovascular drugs : drugs, devices, and other interventionsA Rare Case of Pulmonary Hypertension, Misdiagnosed as Interstitial Lung Disease: Pulmonary Capillary Hemangiomatosis.
TanaffosSolitary pulmonary capillary hemangioma mimicking a preinvasive malignant lesion in an asymptomatic middle-aged female patient.
International cancer conference journalCase report: Rescue treatment with add-on selexipag in a preterm infant with suprasystemic pulmonary hypertension, pulmonary capillary hemangiomatosis, and isolated pulmonary vein stenosis.
Frontiers in cardiovascular medicineEfficacy and safety of oral pulmonary vasodilators in pulmonary veno-occlusive disease.
Pulmonary circulationDual-energy CT lung perfusion characteristics in pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH): preliminary experience in 63 patients.
European radiologyIdentification of a Novel EIF2AK Variant and Genetics-Assisted Approach to Diagnosis of Pulmonary Capillary Hemangiomatosis.
LungMEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
GenesUltrastructural findings of lung injury due to Vaccine-induced Immune Thrombotic Thrombo- cytopenia (VITT) following COVID-19 vaccination: a scanning electron microscopic study.
European review for medical and pharmacological sciencesA patient with pulmonary hypertension waiting for donor lungs during the pandemic: 194 days on extracorporeal life support including 143 days on pulmonary artery to left atrium shunt.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsPulmonary capillary hemangiomatosis: a case series and review of literature.
American journal of cardiovascular diseaseRapidly Progressive Respiratory Failure in Patient With Late Onset Pulmonary Capillary Hemangiomatosis.
American journal of therapeuticsAutopsy study of pulmonary capillary hemangiomatosis with inflammatory cell infiltration into the myocardium.
Pulmonary circulationPulmonary capillary hemangiomatosis-predominant vasculopathy in a patient with rheumatoid arthritis-associated interstitial lung disease: An autopsy report.
Respiratory medicine case reportsUnited States Pulmonary Hypertension Scientific Registry: Baseline Characteristics.
ChestPulmonary capillary hemangiomatosis in Chinese patients without EIF2AK4 mutations.
Pathology, research and practiceA novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype.
Pulmonary circulationVasohibin-1 and miR-720 expression in diffuse pulmonary capillary hemangiomatosis-like changes associated with pulmonary hypoplasia.
Pathology internationalPulmonary vasodilators can lead to various complications in pulmonary "arterial" hypertension associated with congenital heart disease.
Heart and vesselsCase 276: Pulmonary Veno-Occlusive Disease and Pulmonary Capillary Hemangiomatosis Disease.
RadiologyFeatures of radiological and physiological findings in pulmonary capillary hemangiomatosis: an updated pooled analysis of confirmed diagnostic cases.
Pulmonary circulationPulmonary capillary hemangiomatosis or hepatopulmonary syndrome in a patient with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia syndrome?
Chinese medical journalNovel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.
BMC medical geneticsAn Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study.
The American journal of case reportsPulmonary capillary hemangiomatosis: a lesson learned.
Autopsy & case reportsNovel Lung Biopsy Surgical Technique for Definitive Diagnosis of Pulmonary Capillary Hemangiomatosis.
The Annals of thoracic surgeryPulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis.
QJM : monthly journal of the Association of PhysiciansA case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica.
BMC pulmonary medicineLeft ventricular noncompaction with pulmonary capillary hemangiomatosis-like lesions: case report.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyUnited States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications.
Pulmonary circulationPulmonary capillary hemangiomatosis: An unusual cause of primary pulmonary hypertension in a child with characteristic computed tomography imaging features.
Lung India : official organ of Indian Chest SocietyComprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis.
The journal of pathology. Clinical researchPulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog.
Acta veterinaria ScandinavicaClinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis.
Journal of veterinary internal medicineUse of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review.
Respiratory investigation[Pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis: A case report and literature review].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesClinical and pathological characteristics of spontaneous pneumothorax in women: a 25-year single-institutional experience.
General thoracic and cardiovascular surgeryPulmonary capillary hemangiomatosis diagnosed by pathology of explanted lungs: a unique etiology serves as a key of clinical diagnosis.
General thoracic and cardiovascular surgeryGenetic analyses in a cohort of 191 pulmonary arterial hypertension patients.
Respiratory researchSeries of rare lung diseases mimicking imaging patterns of common diffuse parenchymal lung diseases.
Lung India : official organ of Indian Chest SocietyClinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis.
Journal of cardiologyVascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.
MedicinePulmonary Capillary Hemangiomatosis without Pulmonary Hypertension: An Early Stage of Disease?
Chinese medical journalPulmonary Capillary Hemangiomatosis Associated with CREST Syndrome: A Challenge of Diagnosis and Treatment.
Chinese medical journalGenetics of Pulmonary Arterial Hypertension.
Seminars in respiratory and critical care medicinePhenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
CirculationEfficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis.
Respiratory medicinePulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncGenetics of pulmonary hypertension in the clinic.
Current opinion in pulmonary medicineVasoproliferative process resembling pulmonary capillary hemangiomatosis in a cat.
BMC veterinary research[Congenital pulmonary capillary hemangiomatosis in a newborn].
Archivos argentinos de pediatriaPulmonary veno-occlusive disease: Two children with gradual disease progression.
Respiratory medicine case reportsEIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
ChestSmall Sample Lung Biopsy Findings in Patients With Clinicoradiologic Suspicion of Pulmonary Venoocclusive Disease-Pulmonary Capillary Hemangiomatosis.
Journal of bronchology & interventional pulmonologyPulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease.
Clinics in chest medicineReactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome.
Case reports in cardiologyFavorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis.
International journal of cardiologyPulmonary Veno-Occlusive Disease: A Newly Recognized Cause of Severe Pulmonary Hypertension in Dogs.
Veterinary pathology[Pulmonary capillary hemangiomatosis: a case report and literature review].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesA 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.
BMC medical geneticsPulmonary capillary hemangiomatosis: the role of invasive cardiopulmonary exercise testing.
Pulmonary circulationA simple method to assess in vivo proliferation in lung vasculature with EdU: the case of MMC-induced PVOD in rat.
Analytical cellular pathology (Amsterdam)Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.
The application of clinical geneticsEpoprostenol Therapy for Pulmonary Arterial Hypertension.
Acta medica OkayamaPulmonary capillary hemangiomatosis associated with connective tissue disease: a report of 4 cases and review of the literature.
Annals of diagnostic pathologyPulmonary capillary hemangiomatosis in a neonate with congenital diaphragmatic hernia.
Pediatric surgery internationalPulmonary capillary hemangiomatosis: a rare cause of pulmonary hypertension.
Archives of pathology & laboratory medicineAssociações
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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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.
- Circulating microRNAs in pulmonary arterial hypertension: biomarkers for diagnosis, prognostic stratification, and treatment.
- Solitary Pulmonary Capillary Hemangioma: Recognition, Clinicopathological Characteristics, and Recent Advances.
- Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
- Integrated Stress Response (ISR) Modulators in Vascular Diseases.
- Pathology of Pulmonary Vascular Disease with Radiologic Correlation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:199241(Orphanet)
- OMIM OMIM:234810(OMIM)
- MONDO:0009329(MONDO)
- GARD:15027(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7259524(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
