RESUMO
OBJECTIVES: The aim of this study is to investigate the relationship between spinal MRI findings with disease activity and other clinical and serological parameters, and to determine the importance of MRI scoring system in evaluating disease activity of SAPHO syndrome. METHODS: Thirty patients with SAPHO syndrome underwent clinical, laboratory and MRI evaluation at baseline, 3 months, 6 months and 1 year. Magnetic resonance images were analysed using modified Spondyloarthritis Research Consortium of Canada (SPARCC) scoring system. Correlations between MRI score and clinical and laboratory parameters were analysed using Spearman's rank correlation test. RESULTS: Persistent improvement was observed after 12 months in terms of total modified SPARCC scores (37(12,59) vs. 23(5,45) at baseline and 12 months, p<0.05). Total modified SPARCC scores showed Spearman correlations with hypersensitive C-reaction protein (hs-CRP), ankylosing spondylitis disease activity score (ASDAS) and bath ankylosing spondylitis metroloty index (BASMI) at baseline, 3 months, 6 months and 12 months (p varied from <0.001 to <0.05, and r varied from 0.418 to 0.601). Modified SPARCC scores of spine joint, as the largest contribution to the total scores with the mean score of 12(5,30) after 12 months vs. 26 (12,40) at baseline. CONCLUSIONS: The modified SPARCC score proposed in this study exhibits promising potential in the evaluation of extensive radiographic damage in SAPHO and the reflection the disease activity. Our study suggests that MRI could be used together with other parameters of disease activity in the assessment of symptomatic SAPHO patients with spine involvement.
Assuntos
Síndrome de Hiperostose Adquirida , Coluna Vertebral , Síndrome de Hiperostose Adquirida/diagnóstico por imagem , Síndrome de Hiperostose Adquirida/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologiaAssuntos
Clavícula , Imunossupressores/administração & dosagem , Deformidades Articulares Adquiridas , Coluna Vertebral , Síndrome de Hiperostose Adquirida/sangue , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Síndrome de Hiperostose Adquirida/fisiopatologia , Sedimentação Sanguínea , Proteína C-Reativa/análise , Clavícula/diagnóstico por imagem , Clavícula/patologia , Diagnóstico Diferencial , Humanos , Deformidades Articulares Adquiridas/diagnóstico por imagem , Deformidades Articulares Adquiridas/etiologia , Masculino , Pessoa de Meia-Idade , Limitação da Mobilidade , Índice de Gravidade de Doença , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tempo , Tomografia Computadorizada por Raios X/métodosRESUMO
PURPOSE OF REVIEW: To describe in detail the clinical synopsis and pathophysiology of chronic non-bacterial osteomyelitis and SAPHO syndrome. RECENT FINDINGS: Chronic non-bacterial osteomyelitis (CNO) has been identified as a disease entity for almost 50 years. This inflammatory bone disorder is characterized by osteolytic as well as hyperostotic/osteosclerotic lesions. It is chronic in nature, but it can present with episodic flairs and phases of remission, which have led to the denomination "chronic recurrent osteomyelitis", with its severe multifocal form "chronic recurrent multifocal osteomyelitis" (CRMO). For almost three decades, an infectious aetiology had been considered, since especially Propionibacterium acnes had been isolated from bone lesions of individual patients. However, this concept has been challenged since long-term antibiotic therapy did not alter the course of disease and modern microbiological techniques (including PCR) failed to confirm bone infection as an underlying cause. Over recent years, a profound dysregulation of cytokine expression profiles has been demonstrated in innate immune cells of CNO patients. A hallmark of monocytes from CNO patients is the failure to produce immune regulatory cytokines interleukin-10 (IL-10) and IL-19, which have been linked with genetic and epigenetic alterations. Subsequently, a significant upregulation of pro-inflammatory, NLRP3 inflammasome-dependent cytokines (IL-1ß and TNF-α), has been demonstrated. The current knowledge on CNO, the underlying molecular pathophysiology, and modern imaging strategies are summarized; differential diagnoses, treatment options, outcome measures, as well as quality of life studies are discussed.
Assuntos
Síndrome de Hiperostose Adquirida , Osteomielite , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/fisiopatologia , Adulto , Criança , Doença Crônica , Citocinas , Epigênese Genética , Humanos , Inflamassomos , Osteomielite/diagnóstico , Osteomielite/fisiopatologia , Qualidade de VidaRESUMO
BACKGROUND: Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in manifestation und therapeutic response. Genetic risk factors have long been assumed in both diseases, but no single reliable factor has been identified yet. Therefore, we aimed to clinically characterize a patient group with syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) (n = 47) and chronic recurrent multifocal osteomyelitis (CRMO)/ chronic non-bacterial osteomyelitis (CNO) (n = 9) and analyze a CRMO candidate gene. METHODS: Clinical data of all patients were collected and assessed for different combinations of clinical symptoms. SAPHO patients were grouped into categories according to the acronym; disease-contribution by pathogens was evaluated. We sequenced coding exons of FBLIM1. RESULTS: Palmoplantar pustular psoriasis (PPP) was the most common skin manifestation in CRMO/CNO and SAPHO patients; most SAPHO patients had sterno-costo-clavicular hyperostosis. The most common clinical category of the acronym was S_PHO (n = 26). Lack of pathogen detection from bone biopsies was more common than microbial isolation. We did not identify autosomal-recessive FBLIM1 variants. CONCLUSIONS: S_PHO is the most common combination of symptoms of its acronym. Genetic analyses of FBLIM1 did not provide evidence that this gene is relevant in our patient group. Our study indicates the need to elucidate SAPHO's and CRMO/CNO's pathogenesis.
Assuntos
Síndrome de Hiperostose Adquirida/genética , Moléculas de Adesão Celular/genética , Proteínas do Citoesqueleto/genética , Predisposição Genética para Doença , Osteomielite/genética , Síndrome de Hiperostose Adquirida/fisiopatologia , Adolescente , Adulto , Criança , Feminino , Humanos , Hiperostose/genética , Hiperostose/fisiopatologia , Masculino , Osteomielite/fisiopatologia , Psoríase/genética , Psoríase/fisiopatologia , Fatores de RiscoRESUMO
INTRODUCTION: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an autoinflammatory disorder without standardized treatment. Janus kinase (JAK) inhibitors can block a range of cytokines and might possess significant anti-inflammatory activity. Here, we report the first case of efficacious treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib. CASE PRESENTATION: A 44-year-old woman presented with arthralgia in the right wrist and complained of having difficulty in doing housework. Symptoms were unresponsiveness to nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and tumor necrosis factor inhibitors. A diagnosis of SAPHO syndrome was made based on previous dermatological and osteoarticular manifestations and bone scintigraphy findings. Oral treatment with tofacitinib at 5âmg twice daily in combination with the basic methotrexate treatment was initiated. After 4 weeks of using tofacitinib, the patient reported marked improvement of symptoms and also reported being competent in completing housework. CONCLUSIONS: The efficacy of JAK inhibitors in treating refractory SAPHO syndrome should be noted.
Assuntos
Síndrome de Hiperostose Adquirida/tratamento farmacológico , Metotrexato , Piperidinas , Pirimidinas , Pirróis , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/fisiopatologia , Adulto , Antirreumáticos/administração & dosagem , Antirreumáticos/efeitos adversos , Autoimunidade/efeitos dos fármacos , Osso e Ossos/diagnóstico por imagem , Resistência a Múltiplos Medicamentos , Quimioterapia Combinada/métodos , Feminino , Humanos , Testes Imunológicos/métodos , Inibidores de Janus Quinases/administração & dosagem , Inibidores de Janus Quinases/efeitos adversos , Metotrexato/administração & dosagem , Metotrexato/efeitos adversos , Piperidinas/administração & dosagem , Piperidinas/efeitos adversos , Pirimidinas/administração & dosagem , Pirimidinas/efeitos adversos , Pirróis/administração & dosagem , Pirróis/efeitos adversos , Tomografia Computadorizada de Emissão/métodos , Resultado do TratamentoRESUMO
Overt infection by Propionibacterium acnes is lacking in many SAPHO syndromes, and antibiotics have only a transient and incomplete effect, either in SAPHO syndrome or acne. As several auto-inflammatory bone disorders sharing overproduction of IL-1ß can mimic SAPHO, this syndrome could partly depend on genetically encoded overproduction of IL-1ß. However, cyclic intracellular infections, mostly by P. acnes, can contribute to the enhanced IL-1ß release by some skin cells, and probably by bone cells. P. acnes is indeed a powerful trigger of NLRP3-inflammasome activation and IL-1ß, leading to osteitis and enhanced mesenchymal cells differentiation in osteoblasts. Recent advances in the understanding of acne suggest that first steps of this disorder are not driven by P. acnes, but by a relative deficiency of FoxO1 within the nucleus of sebaceous cells. A similar defect of FoXO1 in bone cells should also be sought in SAPHO, since repression of FoxO1 gene is found in lesional psoriasis skin, and is associated with an increased number of osteoblasts and high bone mass in mice. FoxO1 selectively promotes IL-1ß production, so that its downregulation could help some P. acnes t escape innate immunity and persist in a latent state in bone cells, including mesenchymal stem cells. However, P. acnes itself possibly contributes to FoxO1 downregulation, like H. pylori infection which induces nuclear inactivation of FoxO1 in human gastric cells to slow down autophagic clearance. As bisphosphonates, which often improve SAPHO syndromes, enhance autophagy, it may be worth testing whether their combination with antibiotics is synergistic in SAPHO syndromes.
Assuntos
Acne Vulgar/microbiologia , Acne Vulgar/fisiopatologia , Síndrome de Hiperostose Adquirida/microbiologia , Proteína Forkhead Box O1/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Propionibacterium acnes/patogenicidade , Síndrome de Hiperostose Adquirida/fisiopatologia , Autofagia , Progressão da Doença , Regulação para Baixo , Feminino , Humanos , Interleucina-1/metabolismo , Masculino , Prognóstico , Medição de Risco , Índice de Gravidade de DoençaAssuntos
Síndrome de Hiperostose Adquirida , Vértebras Cervicais , Infliximab/administração & dosagem , Cifose , Cervicalgia/diagnóstico , Fusão Vertebral/métodos , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/fisiopatologia , Síndrome de Hiperostose Adquirida/terapia , Antirreumáticos/administração & dosagem , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/patologia , Descompressão Cirúrgica/métodos , Diagnóstico Diferencial , Humanos , Aumento da Imagem/métodos , Cifose/diagnóstico por imagem , Cifose/fisiopatologia , Cifose/cirurgia , Imageamento por Ressonância Magnética/métodos , Masculino , Metotrexato/administração & dosagem , Pessoa de Meia-Idade , Cervicalgia/etiologia , Resultado do TratamentoAssuntos
Síndrome de Hiperostose Adquirida/diagnóstico , Anticorpos Monoclonais/uso terapêutico , Dor no Peito/etiologia , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Síndrome de Hiperostose Adquirida/fisiopatologia , Adulto , Humanos , Masculino , Psoríase/diagnóstico , Psoríase/tratamento farmacológico , Psoríase/etiologia , Resultado do TratamentoRESUMO
OBJECTIVES: To determine the prevalence of ultrasonographic abnormalities of sternoclavicular joints (SCJ) and peripheral joints (PJ) in patients with synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome. METHODS: Thirteen patients with SAPHO syndrome who fulfilled diagnostic criteria proposed by Kahn for SAPHO syndrome 2003 and 13 healthy individuals age- and sex-matched were enrolled. Synovitis, defined by synovial hypertrophy with power Doppler (PD) signals, of the SCJ and the PJ including wrist, MCP, PIP, and the other symptomatic joints were evaluated by ultrasound (US). RESULTS: Synovitis with PD signals was detected in 16 (61.5%) of the 26 SCJ and 11 (84.6%) of the SAPHO syndrome patients, and none of the controls. Synovitis with PD signals in any PJ was detected in 4 (30.7%) of the SAPHO syndrome patients. CONCLUSIONS: Synovitis of the SCJ and PJ in SAPHO syndrome was detectable by US with a PD method. US can be useful for the diagnosis of SAPHO syndrome.
Assuntos
Síndrome de Hiperostose Adquirida , Articulação Esternoclavicular , Sinovite , Ultrassonografia , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/fisiopatologia , Adulto , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Articulação Esternoclavicular/diagnóstico por imagem , Articulação Esternoclavicular/patologia , Sinovite/diagnóstico , Sinovite/etiologia , Ultrassonografia/métodos , Ultrassonografia/estatística & dados numéricosRESUMO
A 79-year-old Asian man was hospitalized because of progressive exertional dyspnea with decreasing left ventricular ejection fraction and frequent non-sustained ventricular tachycardia. Pre-procedure venography for implantable cardioverter defibrillator (ICD) implantation showed occlusion of the bilateral subclavian veins. In consideration of subcutaneous humps in the sterno-clavicular area and palmoplantar pustulosis, we diagnosed him as having synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome and speculated that it induced peri-osteal chronic inflammation in the sterno-clavicular area, resulting in occlusion of the adjacent bilateral subclavian veins. An automatic external defibrillator (AED) was installed in the patient's house and total subcutaneous ICD was considered. Venous thrombosis in SAPHO syndrome is not frequent but has been reported. To the best of our knowledge, this is the first case of bilateral subclavian vein occlusion in a SAPHO syndrome patient who needs ICD implantation.
Assuntos
Síndrome de Hiperostose Adquirida , Desfibriladores Implantáveis , Gerenciamento Clínico , Veia Subclávia , Taquicardia Ventricular/prevenção & controle , Trombose Venosa , Síndrome de Hiperostose Adquirida/complicações , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/fisiopatologia , Idoso , Desfibriladores , Humanos , Masculino , Flebografia/métodos , Veia Subclávia/diagnóstico por imagem , Veia Subclávia/patologia , Taquicardia Ventricular/complicações , Trombose Venosa/diagnóstico , Trombose Venosa/etiologiaRESUMO
A 43-year-old woman with a 3-year history of headache, fever, and swelling of the forehead, presented to our hospital. A general examination revealed palmar and plantar pustules. Blood analyses showed an elevated white blood cell count, C-reactive protein level, and erythrocyte sedimentation rate. Brain MRI revealed a partially thickened cranial bone with gadolinium enhancement, and also abnormally enhanced dura mater. Bone scintigraphy showed involvement of the cranial bone and bilateral sternoclavicular joints. Palmar skin biopsy indicated palmoplantar pustulosis. From these results, SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome with associated hypertrophic pachymeningitis was diagnosed. After corticosteroid therapy and tonsillectomy, the clinical symptoms and radiological abnormalities were improved. Clinicians should be aware of SAPHO as a potential unusual cause of hypertrophic pachymeningitis.
Assuntos
Síndrome de Hiperostose Adquirida/complicações , Dura-Máter/patologia , Imageamento por Ressonância Magnética , Meningite/etiologia , Meningite/patologia , Crânio/patologia , Síndrome de Hiperostose Adquirida/patologia , Síndrome de Hiperostose Adquirida/fisiopatologia , Adulto , Feminino , Febre/etiologia , Testa/patologia , Cefaleia/etiologia , Humanos , Hipertrofia/patologia , Meningite/diagnósticoRESUMO
Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory disease with unpredictable, painful courses of osteolytic lesions in the bones. CNO is frequently associated with psoriasis and inflammatory bowel disease. In cases with multifocal lesions the term chronic recurrent multifocal osteomyelitis (CRMO) is preferably used. SAPHO (synovitis, acne, pustulosis palmoplantaris, hyperostosis and osteitis) syndrome is regarded as CRMO in adults. New knowledge of the hereditary forms like Majeed syndrome, deficiency of IL-1-receptor antagonist and cherubism is described.
Assuntos
Osteocondrodisplasias/fisiopatologia , Síndrome de Hiperostose Adquirida/fisiopatologia , Anemia Diseritropoética Congênita/fisiopatologia , Querubismo/fisiopatologia , Criança , Doenças Hereditárias Autoinflamatórias/fisiopatologia , Humanos , Síndromes de Imunodeficiência , Osteomielite/fisiopatologia , Receptores de Interleucina-1/antagonistas & inibidoresRESUMO
BACKGROUND: Due to diagnostic and therapeutic advances, quality of life of patients with spondyloarthritides (SpA) has improved substantially in recent years. However, little is known about how patients with the SAPHO syndrome, a heterogeneous disease counted among the SpAs, profit from these advances. OBJECTIVE: To investigate current aspects of patient care in a nationwide SAPHO cohort. METHODS: Patients were recruited in a university centre and via a nationwide SAPHO patient support group. Medical records were reviewed and patients were asked to complete a questionnaire on the course of diagnosis, disease burden and treatment regimen. RESULTS: A total of 64 patients were included in the analysis. The mean time from disease onset to diagnosis was 3.8 ± 5.3 years. The patients' overall satisfaction with the course of diagnosis was 23.0 ± 28.9 on a visual analogue scale (VAS) from 0 to 100. Musculoskeletal symptoms had the highest impact on the patients' wellbeing. The mean overall disease burden on a VAS for pain was 45.4 ± 25.9. Limitations in the quality of life were reported mainly in the general health, bodily pain and vitality dimensions of the SF-36 questionnaire. Current treatments consisted of NSAIDs (77%), DMARDs (27%), glucocorticoids (23%), TNF-inhibitors (16%) and bisphosphonates (11%). CONCLUSIONS: The SAPHO syndrome has a high impact on the patients' general health and quality of life. Establishing the diagnosis still takes years and expends multiple medical resources. Effective treatments such as TNF-inhibitors are rarely prescribed and current disease burden is not acceptable.
Assuntos
Síndrome de Hiperostose Adquirida/fisiopatologia , Efeitos Psicossociais da Doença , Qualidade de Vida , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Adulto , Anti-Inflamatórios não Esteroides/uso terapêutico , Antirreumáticos/uso terapêutico , Conservadores da Densidade Óssea/uso terapêutico , Estudos de Coortes , Diagnóstico Tardio/estatística & dados numéricos , Difosfonatos/uso terapêutico , Feminino , Alemanha , Glucocorticoides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Estudos Retrospectivos , Índice de Gravidade de Doença , Inquéritos e Questionários , Resultado do Tratamento , Fator de Necrose Tumoral alfa/antagonistas & inibidoresRESUMO
Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) syndrome is a rare and often unrecognized disease with prominent inflammatory cutaneous and articular manifestations. Since the identification of the syndrome many immunosuppressive drugs have been used for the management of SAPHO, with variable results. The use of anti- TNF-α agents as a therapeutic option for SAPHO cases unresponsive or refractory to conventional drugs, demonstrated their efficacy for bone, skin and joints manifestations. TNF-α is a pro-inflammatory cytokine and pivotal regulator of other cytokines, including IL-1 ß , IL-6 and IL-8, involved in inflammation, acute-phase response induction and chemotaxis. IL-1 inhibition strategies with Anakinra have proven their efficacy as first and second line treatment. We herein review the literature concerning the use of biological drugs in patients with SAPHO syndrome. In addition, we describe for the first time the use of Ustekinumab, an antibody against the p40 subunit of IL-12 and IL-23, after failure of multiple drugs including anti-TNF-α and Anakinra. This anti-IL12/IL23 agent could be a promising therapeutic option, also considering the opportunity to interfere with the IL23/TH17 pathway, which we recently found disturbed. Furthermore, a rationale emerges for the use of the new anti-IL-1 antagonists or the IL-17 blockade, in particular for the most difficult-to-treat SAPHO cases.
Assuntos
Síndrome de Hiperostose Adquirida/tratamento farmacológico , Fatores Imunológicos/uso terapêutico , Imunossupressores/uso terapêutico , Síndrome de Hiperostose Adquirida/imunologia , Síndrome de Hiperostose Adquirida/fisiopatologia , Animais , Anticorpos Monoclonais Humanizados/farmacologia , Anticorpos Monoclonais Humanizados/uso terapêutico , Humanos , Fatores Imunológicos/farmacologia , Imunossupressores/farmacologia , Interleucinas/imunologia , Fator de Necrose Tumoral alfa/antagonistas & inibidores , UstekinumabAssuntos
Síndrome de Hiperostose Adquirida/fisiopatologia , Dermatopatias/patologia , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Dermatopatias/diagnóstico , Dermatopatias/terapiaRESUMO
OBJECTIVE: Painful swelling of the anterior chest wall caused by osteitis and hyperostosis in the sternocostoclavicular region are characteristically observed in patients suffering from SAPHO syndrome. Autoimmune triggering of inflammation and bacterial infection is hypothesized to be involved in the pathogenesis. Promising treatment modalities include antirheumatic and antibiotic medications. METHODS: Ten patients with SAPHO syndrome and symptomatic osteitis in the sternocostoclavicular region were treated by a single instillation of glucocorticosteroids (20 mg triamcinolone) into the sternocostoclavicular joints. The disease activity was evaluated on the basis of a questionnaire asking for osteitis activity (quantified for complains on a scale of 0-6), by Health Assessment Questionnaire (HAQ) score, erythrocyte sedimentation rate, C-reactive protein, and magnet resonance imaging (MRI) scanning of the sternocostoclavicular region (osteitis scores quantified for inflammation on a scale of 0-2 by the radiologist) prior to injection and after 12 weeks. No changes of the preexisting antirheumatic therapy were allowed during the observation interval. RESULTS: All patients continued the study during the follow-up. The osteitis score changed from 4.2 (mean; standard error (SE) ±0.3) to 3.2 (±0.4), [P = 0.062], the erythrocyte sedimentation rate from 19.0 (range from 12 to 30) to 19.9 (from 12 to 27), [P = 0.430], and the MRI score from 1.6 (±0.2) to 1.5 (±0.2) [P = 1.0]. One patient developed an increase of the clinical osteitis activity from 3 to 5 according the scoring system; only 2 patients showed a reduction of the MRI activity score from 2 to 1. CONCLUSIONS: Intra-articular glucocorticosteroid instillation does not appear to reduce osteitis in the sternocostoclavicular region in patients with SAPHO syndrome.
Assuntos
Síndrome de Hiperostose Adquirida/tratamento farmacológico , Articulação Esternoclavicular/efeitos dos fármacos , Triancinolona/uso terapêutico , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/fisiopatologia , Adulto , Idoso , Sedimentação Sanguínea , Feminino , Nível de Saúde , Humanos , Injeções Intra-Articulares/métodos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Osteíte/diagnóstico , Osteíte/tratamento farmacológico , Osteíte/fisiopatologia , Índice de Gravidade de Doença , Articulação Esternoclavicular/patologia , Articulação Esternoclavicular/fisiopatologia , Inquéritos e Questionários , Resultado do Tratamento , Triancinolona/administração & dosagem , Adulto JovemAssuntos
Síndrome de Hiperostose Adquirida/patologia , Síndrome de Hiperostose Adquirida/fisiopatologia , Ílio/patologia , Osteíte/patologia , Espondilite/patologia , Síndrome de Hiperostose Adquirida/complicações , Síndrome de Hiperostose Adquirida/diagnóstico , Adulto , Humanos , Masculino , Osteíte/fisiopatologia , Pioderma Gangrenoso/etiologia , Pioderma Gangrenoso/patologia , Espondilite/fisiopatologiaRESUMO
OBJECTIVE: To analyze the clinical efficacy of anti-tumor necrosis factor-alpha (TNF-alpha) therapy in treatment of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome, we describe cases of refractory SAPHO syndrome and review cases treated with anti-TNF-alpha reported in the literature. METHODS: We describe 6 cases of patients with SAPHO syndrome treated with anti-TNF-alpha between 2004 and 2008. Therapeutic response was evaluated according to improvement in pain score, amelioration of disease activity, and improvement in function. The efficacy of treatment was considered to be reduced need for analgesics and/or antiinflammatory therapy. RESULTS: In our series, 4 patients received infliximab, 1 etanercept, and 1 adalimumab. These treatments brought clinical response in 4 patients (66.6%): response was sustained with infliximab in 1 case for 7 months; with adalimumab in another case for 22 months; and with etanercept in 2 cases for 1 and 42 months, respectively. In contrast, 2 other patients showed no response to infliximab. Improvement was initially temporary after infusions 1 and 2, then pain recurred at Week 14. Skin lesions were healed in 3 of 4 cases, but recurred or worsened in 2 cases, after infusion 2 of infliximab. Treatment was generally well tolerated. Paradoxical psoriasis was noted in 2 cases and urticaria in 1. CONCLUSION: Given our results and those from the literature, TNF-alpha blockers should be considered in the therapeutic strategy of refractory cases of SAPHO syndrome, despite their effect seeming less impressive than in other spondyloarthropathies.
Assuntos
Síndrome de Hiperostose Adquirida/tratamento farmacológico , Anticorpos Monoclonais/uso terapêutico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Síndrome de Hiperostose Adquirida/fisiopatologia , Adalimumab , Adulto , Anticorpos Monoclonais Humanizados , Avaliação da Deficiência , Etanercepte , Feminino , Nível de Saúde , Humanos , Imunoglobulina G/uso terapêutico , Infliximab , Pessoa de Meia-Idade , Receptores do Fator de Necrose Tumoral/uso terapêutico , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
OBJECTIVE: To date there is no uniformly effective treatment for either chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. We report on our clinical experience of using biologic therapy to treat children with these conditions. METHODS: Retrospective descriptive case series of four children with refractory disease treated with biologics. Disease activity was assessed at predetermined time points (T = 0, T = 6 weeks and T = 12 months after the start of biologic therapy, and at latest follow-up) using a combination of clinical examination and radiological findings: a 10 cm pain and physician visual analogue scale; the Childhood Health Assessment Questionnaire as an assessment of disability; and changes in markers of systemic inflammation. RESULTS: There was an initial improvement in all parameters assessed for all three children treated with TNF-alpha blockade, although the third case had to discontinue the therapy due to a suspected (but unconfirmed) fungal skin infection. Anakinra treatment alleviated the symptoms in the fourth patient at 6 weeks, but there was no sustained response to treatment at 1-year follow-up. CONCLUSION: We present our preliminary experience of using biological therapies to treat children with CRMO and SAPHO in conjunction with other immunosuppression. Further studies are needed to establish the role of these therapies in refractory CRMO and SAPHO.
Assuntos
Síndrome de Hiperostose Adquirida/tratamento farmacológico , Antirreumáticos/uso terapêutico , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Osteomielite/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Síndrome de Hiperostose Adquirida/fisiopatologia , Terapia Biológica/métodos , Criança , Doença Crônica , Humanos , Lactente , Osteomielite/fisiopatologia , Estudos Retrospectivos , Resultado do Tratamento , Fator de Necrose Tumoral alfa/uso terapêuticoRESUMO
We report a case of 73-year-old man with massive hyperostosis of the cervical spine associated with diffuse idiopathic skeletal hyperostosis (DISH), resulting in dysphagia, hoarseness and acute respiratory insufficiency. An emergency operation was performed, which involved excision of osteophytes at the level of C6-C7, compressing the trachea against enlarged sternoclavicular joints, also affected by DISH. Approximately 3 years later, the patient sustained a whiplash injury in a low impact car accident, resulting in a C3-C4 fracture dislocation, which was not immediately diagnosed because he did not seek medical attention after the accident. For the next 6 months, he had constant cervical pain, which was growing worse and eventually became associated with dysphagia and dyspnoea, ending once again in acute respiratory failure due to bilateral palsy of the vocal cords. The patient underwent a second operation, which comprised partial reduction and combined anteroposterior fixation of the fractured vertebrae. Twenty months after the second operation, mild hoarseness was still present, but all other symptoms had disappeared. The clinical manifestations, diagnosis and treatment of the two unusual complications of DISH are discussed.