A necrose avascular da cabeça femoral (ANFH) é uma doença gravemente incapacitante caracterizada por dor progressiva na virilha, marcha manca, discrepância no comprimento das pernas, colapso do osso subcondral, limitação da função do quadril e eventual degeneração da articulação do quadril exigindo artroplastia total do quadril.
Introdução
O que você precisa saber de cara
A necrose avascular da cabeça femoral (ANFH) é uma doença gravemente incapacitante caracterizada por dor progressiva na virilha, marcha manca, discrepância no comprimento das pernas, colapso do osso subcondral, limitação da função do quadril e eventual degeneração da articulação do quadril exigindo artroplastia total do quadril.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces
Secreted, extracellular space, extracellular matrix
Spondyloepiphyseal dysplasia congenital type
Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18695040, PubMed:18826956, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:20037586, PubMed:219
Cell membraneApical cell membraneCell junction, adherens junctionCell projection, ciliumEndoplasmic reticulum
Brachyolmia 3
A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.
Variantes genéticas (ClinVar)
1,713 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas 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 — Necrose avascular da cabeça do fêmur, forma familiar
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
Ensaios em destaque
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Outros ensaios clínicos
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Publicações mais relevantes
Familial Cases of Legg-Calvé-Perthes Disease-Hemostatic and Molecular Markers.
Legg-Calvé-Perthes disease (LCPD) is a rare disease caused by avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidence suggests that heritable prothrombotic and inflammatory factors, as well as environmental factors, may be implicated in its onset and progress. The objective of this study is to describe the genetic, biochemical, and environmental factors that may be associated with the etiology of LCPD. This study was conducted in three families and included seven related patients with an LCPD diagnosis. We evaluated the following gene alterations using real-time PCR: MTHFR, CBS, COL1A1, COL2A1, PT, FVL, FVIII, FIX, PAI-1, eNOS, IL-23R, TNF-α, RANNK, RANNK-L, OPG and IL-6. Additionally, we assessed fourteen thrombophilia-associated biochemical markers, as well as environmental factors that may be associated with the etiology of LCPD in family cases. The results show different hemostatic alterations in every individual analyzed, presenting out-of-range values in one or more parameters. Concentrations of hemoglobin and fibrinogen and the FIX activity percentage showed statistically significant differences (p < 0.001) when compared with healthy controls. All patients presented at least one mutated allele for the MTFHR (rs1801133), IL-23R (rs1569922) and OPG (rs2073618) polymorphisms, as well as isolated cases with other genetic variants. Our results show environmental elements from every family, and hemostatic and inflammatory disorders, may be involved in the development of LCPD. Furthermore, genetic variants could contribute to the onset of the disease. This study highlights the multifactorial nature of this pathology, involving various environmental, genetic, inflammatory, and prothrombotic factors in three families that included seven patients diagnosed with LCPD.
Total Hip Arthroplasty in Lubumbashi (DR Congo), Outcomes in a Resource-Limited Setting.
Total hip arthroplasty (THA) is well established in high-income countries but remains challenging in sub-Saharan Africa due to limited implant availability, inadequate infrastructure, and financial constraints. This study presents a 7 year experience of THA in Lubumbashi, Democratic Republic of Congo, focusing on both clinical outcomes and the strategies developed to overcome local challenges. We retrospectively analyzed 60 THAs performed on 58 patients (mean age 53.8 years) between 2017 and 2024 at Medpark Clinic. The main indication was femoral head osteonecrosis (71.6%), including 11 cases in patients with sickle cell disease. All procedures used a transgluteal approach, with implant choice adapted to bone quality and availability. Rehabilitation emphasized early mobilization despite limited physiotherapy resources. At a mean follow-up of 4.5 years, functional outcomes improved markedly, with the Postel-Merle d'Aubigné score rising from 6.4 preoperatively to 16.2 at six months. Excellent or good results were achieved in 90.7% of cases. Complications occurred in 17.2% of patients, including dislocations (6.6%), infections (6.6%), periprosthetic fractures (3.3%), aseptic loosening (3.3%), one pulmonary embolism (1.6 %), and two deaths (3.3%). Barriers included high implant costs and irregular supply, addressed through long-term supplier partnerships and flexible payment plans. Infection control limitations were mitigated by strict asepsis protocols, povidone-iodine lavage, and selective use of antibiotic-loaded cement. In the absence of formal rehabilitation centers, structured patient and family education with early weight-bearing protocols facilitated recovery. Socioeconomic barriers were partially alleviated by forfait-based pricing and community financing mechanisms. Despite significant structural and economic constraints, THA can be safely and effectively implemented in resource-limited African settings when supported by careful surgical planning, tailored implant strategies, strict infection control, and innovative solutions to financial and logistical barriers.
Severe Radiographic Legg-Calvé-Perthes Disease With Favorable Long-Term Functional Outcomes Following Conservative Management: A Case Report.
Legg-Calvé-Perthes disease (LCPD) is a pediatric disorder characterized by avascular necrosis of the femoral head, with prognosis largely determined by the extent of epiphyseal involvement. Severe radiographic classifications are typically associated with poor long-term outcomes and often prompt surgical intervention. We present a case of a male patient diagnosed with unilateral LCPD at age three with extensive femoral head involvement by age six (Catterall Group 4, Salter-Thompson Group B, Herring Group C) who was managed non-operatively over two decades. Treatment consisted of physiotherapy, activity modification, and pain management without surgical intervention. Despite marked femoral head deformity and residual limitations in hip range of motion, the patient achieved high functional capacity, including participation in National Collegiate Athletic Association (NCAA) Division I athletics, and he maintains independence in activities of daily living as a young adult. This case highlights the potential for favorable functional outcomes with conservative management in carefully selected patients with poor-prognosis LCPD and underscores the importance of individualized treatment planning.
A Novel Multisite Peripheral Nerve Stimulation Approach for Chronic Hip Pain in Avascular Necrosis: A Case Report.
Avascular necrosis (AVN) is a progressive disease, commonly leading to joint collapse and severe pain. Peripheral nerve stimulation (PNS) to the lumbar plexus and articular nerves innervating the hip can be a viable option for treatment of hip pain in patients who are not eligible for surgery. A patient with AVN-induced hip pain received bilateral lumbar plexus PNS at the level of L2, resulting in a > 90% relief of bilateral posterolateral aspects of the hip and 50% to 60% reduction in overall hip pain, respectively, at his 2-week follow-up. He subsequently underwent PNS placement to the articular branches of the femoral nerves bilaterally, resulting in improved coverage of the anterior groin leading to a 75% reduction in overall bilateral hip pain. Our case supports the utility of PNS to the lumbar plexus and articular nerve branches innervating the hip joint as a safe and novel treatment for chronic hip pain, despite limited evidence available for lumbar plexus neuromodulation.
Factors That Increase the Risk of Prosthetic Joint Infection Within 90 Days After THA and TKA: A Nationwide Population-based Study.
Prosthetic joint infection (PJI) after THA and TKA is a serious complication. Although previous studies have identified risk factors for overall and late-onset PJI, limited research has focused specifically on infections occurring within the immediate 90-day postoperative period, a time frame critical for assessing surgical quality and early recovery outcomes. What patient and clinical factors are associated with the development of PJI within 90 days after primary THA or TKA? This was a retrospective, controlled study drawn from a longitudinally maintained, large, national database (the Taiwan National Health Insurance Research Database [NHIRD]). The NHIRD, covering > 99% of the population, provides comprehensive data for reliably identifying and tracking postoperative complications such as PJIs. Patients who underwent THA or TKA between January 2016 and December 2017 were identified. Only patients with complete follow-up data for at least 90 days after surgery, based on insurance records, were eligible for inclusion. The primary outcome was PJI within 90 days, defined as the presence of an ICD-10-Clinical Modification (CM) diagnosis code for PJI recorded in claims within 90 days of the index THA or TKA procedure. A total of 13,442 patients who underwent THA and 40,245 patients who underwent TKA were included. The PJI rate within 90 days was 0.61% (82 of 13,442) for THA and 0.58% (232 of 40,245) for TKA. Cox regression analyses were used to estimate associations between potential demographic and clinical factors and the risk of PJI within 90 days. After adjusting for age, sex, diabetes, and other clinically relevant factors, we found that the adjusted HR (aHR) for PJI within 90 days after THA was higher among patients who were male (aHR 2.49 [95% confidence interval (CI) 1.38 to 4.48]; p < 0.01), had a longer length of stay (aHR 1.06 [95% CI 1.04 to 1.09]; p < 0.01), had diabetes mellitus (aHR 3.72 [95% CI 2.21 to 6.26]; p < 0.01), had hepatitis B infection (aHR 2.44 [95% CI 1.11 to 5.36]; p = 0.03), and had hepatitis C infection (aHR 2.76 [95% CI 1.14 to 6.66]; p = 0.02). A preoperative diagnosis of osteoarthritis or avascular necrosis of the femoral head was associated with a reduced risk of PJI within 90 days after THA, compared with other etiologies (aHR 0.48 [95% CI 0.27 to 0.87] and aHR 0.43 [95% CI 0.22 to 0.84]; both p = 0.01). The aHR for PJI within 90 days after TKA was higher for patients who were younger than 65 years (aHR 1.57 [95% CI 1.18 to 2.08]; p < 0.01), male (aHR 2.05 [95% CI 1.55 to 2.71]; p < 0.01), had a longer length of stay (aHR 1.09 [95% CI 1.08 to 1.11]; p < 0.01), had osteoporosis (aHR 1.44 [95% CI 1.08 to 1.92]; p = 0.01), and had chronic kidney disease (aHR 1.50 [95% CI 1.06 to 2.11]; p = 0.02). The aHR was lower for patients who had bilateral TKA (aHR 0.31 [95% CI 0.12 to 0.84]; p = 0.02) compared with those who had unilateral TKA only. Male sex, diabetes, hepatitis C, osteoporosis, chronic kidney disease, and younger age after TKA were associated with a higher risk of PJI within 90 days. The findings indicate that surgeons may enhance perioperative infection prevention efforts in these high-risk patients by optimizing glycemic control, improving perioperative medical management, minimizing surgical time and blood loss when possible, and ensuring rigorous postoperative wound surveillance. Future large-scale observational studies are needed to refine individualized risk prediction and assess the effectiveness of targeted preventive strategies in real-world clinical practice. Level III, therapeutic study.
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Chinese medical journalPitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
JIMD reportsOsteonecrosis After Femoral Neck Fractures in Children and Adolescents: Analysis of Risk Factors.
Journal of pediatric orthopedics[Buschke-Ollendorff syndrome in two generations imitated Calvé-Legg-Perthes disease].
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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.
- Familial Cases of Legg-Calvé-Perthes Disease-Hemostatic and Molecular Markers.
- Total Hip Arthroplasty in Lubumbashi (DR Congo), Outcomes in a Resource-Limited Setting.
- Severe Radiographic Legg-Calvé-Perthes Disease With Favorable Long-Term Functional Outcomes Following Conservative Management: A Case Report.
- A Novel Multisite Peripheral Nerve Stimulation Approach for Chronic Hip Pain in Avascular Necrosis: A Case Report.
- Factors That Increase the Risk of Prosthetic Joint Infection Within 90 Days After THA and TKA: A Nationwide Population-based Study.
- The role of gender in patients with developmental dysplasia of the hip treated with closed reduction and spica cast immobilization: does it affect prognosis?
- Proportion of Avascular Necrosis of Femoral Head in Coronavirus Disease 19 Patients.
- Effects of PRP injection combined with intersecting femoral head decompression versus combined with multiple core decompression in the treatment of avascular necrosis of femoral head-a single-center retrospective cohort study.
- Hip arthroscope-assisted percutaneous reduction and fixation of displaced subcapital femoral neck fracture.
- Clinical analysis of Ganz approach in the treatment of Pipkin type IV fracture: a retrospective review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:86820(Orphanet)
- MONDO:0012126(MONDO)
- GARD:10914(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1652102(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
