RESUMEN
Neonatal purpura fulminans (PF) is a life-threatening disorder caused by congenital or acquired deficiencies of protein C (PC) or S. PF presents as a cutaneous manifestation of disseminated intravascular coagulation. We describe a case of PF in a newborn with left leg ischemia and undetectable PC levels soon after birth. Despite anticoagulation therapy and PC concentrate, left foot amputation was required. Genetic testing of PROC for congenital PC deficiency was normal. This case highlights the course of PF due to acquired PC deficiency in a newborn treated with PC concentrate which is rarely described in the literature.
Asunto(s)
Enfermedades del Recién Nacido , Deficiencia de Proteína C , Púrpura Fulminante , Humanos , Recién Nacido , Enfermedades del Recién Nacido/sangre , Enfermedades del Recién Nacido/genética , Masculino , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/genética , Púrpura Fulminante/sangre , Púrpura Fulminante/genéticaAsunto(s)
Secuencia de Bases , Exones , Proteína C , Púrpura Fulminante , Eliminación de Secuencia , Sustitución de Aminoácidos , Pruebas de Coagulación Sanguínea , Preescolar , Femenino , Humanos , Recién Nacido , Proteína C/genética , Proteína C/metabolismo , Púrpura Fulminante/sangre , Púrpura Fulminante/genética , Púrpura Fulminante/patología , Púrpura Fulminante/terapiaAsunto(s)
Antibacterianos/administración & dosificación , Desbridamiento/métodos , Gangrena , Púrpura Fulminante , Biopsia/métodos , Coagulación Intravascular Diseminada , Diagnóstico Precoz , Femenino , Gangrena/etiología , Gangrena/cirugía , Humanos , Persona de Mediana Edad , Púrpura Fulminante/sangre , Púrpura Fulminante/diagnóstico , Púrpura Fulminante/fisiopatología , Púrpura Fulminante/terapia , Úlcera Cutánea/etiología , Úlcera Cutánea/patología , Tiempo de TratamientoAsunto(s)
Infecciones por Citomegalovirus , Citomegalovirus/metabolismo , Herpesvirus Humano 3/metabolismo , Proteína S/metabolismo , Púrpura Fulminante , Infección por el Virus de la Varicela-Zóster , Adulto , Infecciones por Citomegalovirus/sangre , Infecciones por Citomegalovirus/patología , Infecciones por Citomegalovirus/terapia , Infecciones por Citomegalovirus/virología , Femenino , Humanos , Púrpura Fulminante/sangre , Púrpura Fulminante/patología , Púrpura Fulminante/terapia , Púrpura Fulminante/virología , Infección por el Virus de la Varicela-Zóster/sangre , Infección por el Virus de la Varicela-Zóster/patología , Infección por el Virus de la Varicela-Zóster/terapia , Infección por el Virus de la Varicela-Zóster/virologíaRESUMEN
A 42-year-old woman with a history of acute myeloid leukaemia status postallogeneic stem cell transplant presented with fevers, altered mental status, pulmonary infiltrates and septic shock that further progressed to thrombocytopenia and purpura fulminans. Laboratory studies were consistent with a diagnosis of thrombotic thrombocytopenic purpura (TTP). Blood cultures grew Streptococcus pneumoniae On chart review, our patient had a history of low immunoglobulin levels following stem cell transplant, which may have predisposed her to pneumococcal infection. The patient responded to therapy with ceftriaxone, plasma exchange, rituximab and caplacizumab. This is the fourth-documented case of pneumococcal induced TTP and, to the best of our knowledge, the first-describing pneumococcal induced TTP with purpura fulminans. We conclude that patients with TTP should be evaluated for infectious aetiologies and empiric antibiotics should be considered. Clinicians should be aware of the possibility for TTP to lead to purpura fulminans.
Asunto(s)
Bacteriemia/complicaciones , Infecciones Neumocócicas/complicaciones , Púrpura Trombocitopénica Trombótica/etiología , Choque Séptico/complicaciones , Adulto , Antibacterianos/uso terapéutico , Bacteriemia/sangre , Bacteriemia/terapia , Ceftriaxona/uso terapéutico , Diagnóstico Diferencial , Femenino , Fibrinolíticos/uso terapéutico , Dedos/patología , Dedos/cirugía , Gangrena , Glucocorticoides/uso terapéutico , Enfermedad Injerto contra Huésped/tratamiento farmacológico , Humanos , Factores Inmunológicos/uso terapéutico , Leucemia Mieloide Aguda/terapia , Nariz/patología , Intercambio Plasmático , Infecciones Neumocócicas/sangre , Infecciones Neumocócicas/terapia , Púrpura Fulminante/sangre , Púrpura Fulminante/diagnóstico , Púrpura Trombocitopénica Trombótica/sangre , Púrpura Trombocitopénica Trombótica/terapia , Rituximab/uso terapéutico , Choque Séptico/sangre , Choque Séptico/terapia , Anticuerpos de Dominio Único/uso terapéutico , Trasplante de Células Madre , Dedos del Pie/patología , Dedos del Pie/cirugíaAsunto(s)
Mordeduras y Picaduras/sangre , Capnocytophaga/aislamiento & purificación , Animales , Mordeduras y Picaduras/complicaciones , Mordeduras y Picaduras/microbiología , Mordeduras y Picaduras/terapia , Coagulación Intravascular Diseminada/sangre , Coagulación Intravascular Diseminada/etiología , Coagulación Intravascular Diseminada/microbiología , Coagulación Intravascular Diseminada/terapia , Perros , Resultado Fatal , Femenino , Infecciones por Bacterias Gramnegativas/sangre , Infecciones por Bacterias Gramnegativas/etiología , Infecciones por Bacterias Gramnegativas/microbiología , Infecciones por Bacterias Gramnegativas/terapia , Humanos , Persona de Mediana Edad , Insuficiencia Multiorgánica/sangre , Insuficiencia Multiorgánica/etiología , Insuficiencia Multiorgánica/microbiología , Insuficiencia Multiorgánica/terapia , Púrpura Fulminante/sangre , Púrpura Fulminante/etiología , Púrpura Fulminante/microbiología , Púrpura Fulminante/terapia , EsplenectomíaRESUMEN
Purpura fulminans (PF) is a dreadful and frequent complication of Neisseria meningitidis invasive infection, and is associated with a high mortality rate. This syndrome begins with dermal microvessels thrombosis that rapidly lead to hemorrhagic skin necrosis. In this review, we discuss the prothrombotic events occurring during meningococcal infection. Moreover, recent data from an experimental mouse model have highlighted the critical role of the meningococcus adhesion to the endothelium in the development of PF lesions, thus opening new therapeutic perspectives.
Asunto(s)
Infecciones Meningocócicas/complicaciones , Infecciones Meningocócicas/microbiología , Púrpura Fulminante/etiología , Coagulación Sanguínea , Predisposición Genética a la Enfermedad , Interacciones Huésped-Patógeno/genética , Interacciones Huésped-Patógeno/inmunología , Humanos , Infecciones Meningocócicas/inmunología , Neisseria meningitidis/inmunología , Púrpura Fulminante/sangreRESUMEN
HISTORY AND CLINICAL FINDINGS: A 51-year-old female patient with history of longterm drug abuse, was admitted to our hospital with large, stocking-shaped areas of painful, non-displaceable confluent bruising reaching up to the groin. INVESTIGATIONS: The emergency laboratory tests showed leucopenia, thrombocytopenia and anemia as well as a distinct protein C deficiency. DIAGNOSIS, TREATMENT AND COURSE: Purpura fulminans was diagnosed and treated with an initial dose of protein C. The patient survived and the skin necrosis can be treated. CONCLUSION: Purpura fulminans is an internistic and dermatological emergency situation which can lead to shock through consumptive coagulopathy. The serious course of disease can be prevented by rapid treatment with protein C.
Asunto(s)
Urgencias Médicas , Deficiencia de Proteína C/diagnóstico , Púrpura Fulminante/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Pronóstico , Proteína C/administración & dosificación , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/tratamiento farmacológico , Púrpura Fulminante/sangre , Púrpura Fulminante/tratamiento farmacológico , Trastornos Relacionados con Sustancias/complicacionesRESUMEN
Purpura fulminans (PF) is a life-threatening hemorrhagic condition. Because of the rarity and randomness of the disease, no improvement in treatment has been made for a long time. In this study, we assessed the serum proteome response to PF by comparing serum proteins between healthy controls and PF patient. Liquid chromatography with tandem mass spectrometry (LC-MS/MS) approach was used after depleting 6 abundant proteins of serum. In total, 262 proteins were confidently identified with 2 unique peptides, and 38 proteins were identified significantly up- (≥ 2) or downregulated (≤ 0.5) based on spectral counting ratios (SpCPF/N). In the 38 proteins with significant abundance changes, 11 proteins were previously known to be associated with burn or sepsis response, but 27 potentially novel proteins may be specifically associated with PF process. Two differentially expressed proteins, alpha-1-antitrypsin (SERPINA1) and alpha-2 antiplasmin (SERPINF2), were validated by Western blot. This is the first study where PF patient and healthy controls are compared in a proteomic study to elucidate proteins involved in the response to PF. This study provides an initial basis for future studies of PF, and the differentially expressed proteins might provide new therapeutic targets to decrease the mortality of PF.
Asunto(s)
Quemaduras/sangre , Púrpura Fulminante/sangre , Sepsis/sangre , alfa 1-Antitripsina/sangre , alfa 2-Antiplasmina/metabolismo , Biomarcadores/sangre , Quemaduras/complicaciones , Estudios de Casos y Controles , Femenino , Expresión Génica , Ontología de Genes , Humanos , Persona de Mediana Edad , Proteoma/genética , Proteoma/metabolismo , Púrpura Fulminante/microbiología , Sepsis/microbiología , alfa 1-Antitripsina/genética , alfa 2-Antiplasmina/genéticaRESUMEN
The association of idiopathic purpura fulminans (PF) and venous thrombosis (VT) seldom reveals constitutional thrombophilia in an infant. We report a case of PF in an 18-month-old infant. Laboratory tests showed disseminated intravascular coagulation (DIVC) with normal rates of C and S proteins and antithrombin. The echo-Doppler examination conveyed venous thrombosis of the lower limbs, while the genetic study showed heterozygous mutation of Factor II (G 20210A). Precocious and multidisciplinary management included frozen fresh plasma supplementation and necrosectomy with skin grafts. The diagnosis and therapeutic problems posed by PF combined with deep venous thrombosis are discussed.
Asunto(s)
Púrpura Fulminante/diagnóstico , Púrpura Fulminante/genética , Trombofilia/diagnóstico , Trombofilia/genética , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/genética , Alelos , Conducta Cooperativa , Análisis Mutacional de ADN , Coagulación Intravascular Diseminada/sangre , Coagulación Intravascular Diseminada/diagnóstico , Coagulación Intravascular Diseminada/genética , Coagulación Intravascular Diseminada/terapia , Femenino , Estudios de Seguimiento , Francia , Tamización de Portadores Genéticos , Humanos , Lactante , Comunicación Interdisciplinaria , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Necrosis , Protrombina/genética , Púrpura Fulminante/sangre , Púrpura Fulminante/terapia , Piel/patología , Trombofilia/sangre , Ultrasonografía Doppler , Trombosis de la Vena/sangre , Trombosis de la Vena/terapiaRESUMEN
Acute perturbations in the hemostatic balance of anticoagulation and procoagulation antecede the manifestation of purpura fulminans, a rare syndrome of intravascular thrombosis and hemorrhagic infarction of the skin. Hallmarks include small vessel thrombosis, tissue necrosis and disseminated intravascular thrombosis. The course may be rapidly fulminant resulting in multiorgan failure with thrombotic occlusion of the vasculature, leading to distal extremity ischemia and necrosis. Depletion of protein C (PC) has been emphasized in the pathogenesis. Early intravenous antibiotic administration and hemodynamic support are cornerstones in management. Herein, we report a case of pneumococcal sepsis-induced purpura fulminans limited to the skin in an asplenic adult patient without the development disseminated intravascular coagulation.