RESUMO
BACKGROUND: Systemic lupus erythematosus (SLE) significantly affects the lungs and heart, and pulmonary hypertension (PH) is a severe manifestation that leads to considerable morbidity and mortality. OBJECTIVES: We aimed to determine the prevalence and risk factors of probable SLE-PH, assess the main echocardiographic predictors and develop a potential screening strategy. METHODS: A prospective single-centre study was conducted on 201 patients with SLE who underwent transthoracic echocardiography. Patients meeting PH criteria were referred for right heart catheterisation (RHC). RESULTS: Among patients, 88.56% were women, 85.57% were of Spanish origin and 43.78% had structural heart disease. Out of these, 16 (7.96%) had intermediate or high probability criteria for PH according to European Society of Cardiology (ESC) 2022. Six RHCs confirmed PH with a prevalence of 2.99% for SLE-PH and 1.99% for SLE-pulmonary arterial hypertension (PAH). KEY RISK FACTORS: Key risk factors included age, cardiorespiratory symptoms, serositis, anti-Ro, cardiac biomarkers and altered pulmonary function tests (PFTs). PH was linked to a higher Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SDI) (mean SDI 4.75 vs 2.05, p<0.001) and increased mortality risk in a 2-year follow-up (12.50% vs 1.08%, p=0.002). CONCLUSION: In our cohort, 7.96% of patients with SLE had an intermediate or high PH probability. By RHC, six patients (2.99%) met the ESC/European Respiratory Society criteria for PH and four (1.99%) for PAH. The main risk factors were older age, cardiorespiratory symptoms, serositis, anti-Ro, cardiac biomarkers and altered PFTs. PH was a severe SLE complication, suggesting the need for earlier diagnosis through data-driven screening to reduce associated morbidity and mortality.
Assuntos
Hipertensão Pulmonar , Lúpus Eritematoso Sistêmico , Serosite , Humanos , Feminino , Masculino , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/etiologia , Prevalência , Estudos Prospectivos , Ecocardiografia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/epidemiologia , BiomarcadoresRESUMO
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Assuntos
Humanos , Tomografia Computadorizada por Raios X/métodos , Endocardite Bacteriana , Estudos Prospectivos , Sensibilidade e EspecificidadeRESUMO
Tras la presentación de un caso de enfermedad de Niemann-Pick (N-P) tipo B se realiza una revisión de la literatura en la que se describen los hallazgos radiológicos, con especial hincapié en la afectación pulmonar. Se trata de un paciente de 40 años diagnosticado a los 6 años de posible enfermedad de N-P sospechada por presentar hepatoesplenomegalia y patrón reticular en radiografía de tórax, con pruebas de función respiratoria inicialmente normales. Dicho diagnóstico se confirmó mediante medición de la actividad de la enzima esfingomielinasa ácida (ASM) en cultivo de fibroblastos de piel y demostración de la presencia de mutaciones en el gen de la ASM. Ante una enfermedad de depósito habría que tener siempre en cuenta la afectación pulmonar, y la técnica radiológica más fiable es la tomografía computarizada de alta resolución. Aunque el patrón encrazy-paving no es el más específico de esta patología, la enfermedad de N-P debería estar en el diagnóstico diferencial(AU)
We have carried out a review of the literature after the presentation of a case of Niemann-Pick (N-P) disease type B reporting the radiological findings with special emphasis on lung affectation. The patient is 40 years old and was diagnosed at the age of 6 with possible N-P disease suspected due to the presentation of hepatosplenomegaly and reticular pattern on chest radiography, with initially normal lung function tests. Said diagnosis was confirmed by measuring the activity of acid sphingomyelinase (ASM) enzyme in skin fibroblast cultures and by demonstrating the presence of mutations in the ASM gene. In cases of storage disease, lung affectation should always be considered, and the most reliable radiological technique is high-resolution computed tomography. Although the "crazy-paving" pattern is not the most specific for this pathology, N-P disease should be included in the differential diagnosis(AU)
Assuntos
Humanos , Masculino , Adulto , Doença de Niemann-Pick Tipo B/complicações , Doenças Pulmonares Intersticiais/complicações , Hepatomegalia/fisiopatologia , Esplenomegalia/fisiopatologia , Esfingomielina Fosfodiesterase/análise , Diagnóstico Diferencial , Tomografia Computadorizada por Raios XRESUMO
We have carried out a review of the literature after the presentation of a case of Niemann-Pick (N-P) disease type B reporting the radiological findings with special emphasis on lung affectation. The patient is 40 years old and was diagnosed at the age of 6 with possible N-P disease suspected due to the presentation of hepatosplenomegaly and reticular pattern on chest radiography, with initially normal lung function tests. Said diagnosis was confirmed by measuring the activity of acid sphingomyelinase (ASM) enzyme in skin fibroblast cultures and by demonstrating the presence of mutations in the ASM gene. In cases of storage disease, lung affectation should always be considered, and the most reliable radiological technique is high-resolution computed tomography. Although the "crazy-paving" pattern is not the most specific for this pathology, N-P disease should be included in the differential diagnosis.