Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications.

BACKGROUND: Undifferentiated autoinflammatory diseases are characterized by recurrent or persistent fever, usually combined with other inflammatory manifestations, and negative or inconclusive genetic studies for monogenic autoinflammatory disorders. AIMS: To define and characterize disease phenotypes in adult patients diagnosed in an adult reference center with undifferentiated autoinflammatory diseases, and to analyze the efficacy of the drugs used in order to provide practical diagnostic and therapeutic recommendations. METHODS: Retrospective study (2015-2022) of patients with undifferentiated autoinflammatory diseases among all patients visited in our reference center. Demographic, clinical, laboratory features and detailed therapeutic information was collected. RESULTS: Of the 334 patients with a suspected autoinflammatory disease, 134 (40%) patients (61% women) were initially diagnosed with undifferentiated autoinflammatory diseases. Mean age at disease onset and at diagnosis was 28.7 and 37.7 years, respectively. In 90 (67.2%) patients, symptoms started during adulthood. Forty-four (32.8%) patients met diagnostic/classification criteria for adult PFAPA syndrome. In the remaining patients, four additional phenotypes were differentiated according to the predominant manifestations: a) Predominantly fever phenotype (n = 18; 13.4%); b) Predominantly abdominal/pleuritic pain phenotype (n = 9; 6.7%); c) Predominantly pericarditis phenotype (n = 18; 13.4%), and d) Complex syndrome phenotype (n = 45; 33.6%). Prednisone (mainly on demand), colchicine and anakinra were the drugs commonly used. Overall, complete responses were achieved with prednisone in 41.3%, colchicine in 40.2%, and anakinra in 58.3% of patients in whom they were used. By phenotypes, prednisone on demand was more effective in adult PFAPA syndrome and colchicine in patients with the abdominal/pleuritic pain pattern and PFAPA syndrome. Patients with complex syndrome achieved complete responses with prednisone (21.9%), colchicine (25.7%) and anakinra (44.4%), and were the group more often requiring additional immunosuppressive drugs. CONCLUSIONS: The analysis of the largest single-center series of adult patients with undifferentiated autoinflammatory diseases identified and characterized different disease phenotypes and their therapeutic approaches. This study is expected to contribute to increase the awareness of physicians for an early identification of these conditions, and to provide the best known therapeutic options.

Endocarditis bacteriana por Escherichia coli / Bacterial endocarditis due to Escherichia coli

Introducción: La endocarditis bacteriana es una enfermedad poco frecuente, ocasionada en la mayor parte de casos por organismos gram positivos, como estafilococos y estreptococos, seguido por organismos del grupo HACEK y raramente por gram negativos no HACEK. Su incidencia es baja, pero se relaciona con una alta mortalidad; existen diversos factores de riesgo asociados: edad avanzada, sexo femenino, antecedente de cirugías cardiacas, válvulas protésicas, uso de catéteres venosos centrales o urinarios. Objetivo: Describir la evidencia disponible sobre endocarditis bacteriana por Escherichia coli. Desarrollo: Se describe el caso de un paciente adulto mayor, sin antecedentes quirúrgicos cardíacos, que presenta cuadro de desorientación, astenia, adinamia, elevación de la temperatura corporal, asociados a infección urinaria, que luego de recibir piperacilina-tazobactam por 7 días, persiste con alzas térmicas. Hemocultivos confirman bacteriemia por Escherichia coli y en ecocardiograma transesofágico se logra la visualización de una vegetación a nivel de válvula aórtica nativa. El paciente recibió tratamiento antibiótico con cefalosporina de tercera generación por 30 días, con mejoría clínica, eco transesofágico de control sin vegetaciones, ni necesidad inmediata de tratamiento quirúrgico. Conclusiones: La sospecha clínica de endocarditis es importante en el momento de solicitar exámenes diagnósticos e interpretar sus resultados(AU)

Introduction: Bacterial endocarditis is a rare disease, caused in most cases by gram-positive organisms, such as staphylococci and streptococci, followed by HACEK group organisms and rarely by non-HACEK gram-negative organisms. Its incidence is low, but it is related to high mortality; there are several associated risk factors: advanced age, female sex, history of heart surgery, prosthetic valves, use of central venous or urinary catheters. Objective: To describe the available evidence on bacterial endocarditis due to Escherichia coli. Case report: We describe the case of an elderly patient, without a history of cardiac surgery, who showed disorientation, asthenia, adynamia, elevation of body temperature, associated with urinary infection, persisting after taken piperacillin-tazobactam for 7 days with temperature rises. Blood cultures confirm Escherichia coli bacteremia and transesophageal echocardiography exhibited vegetation at the native aortic valve level. The patient received antibiotic treatment with third-generation cephalosporin for 30 days, with clinical improvement, echo transesophageal control with no vegetations, and no immediate need for surgical treatment. Conclusions: The clinical suspicion of endocarditis is vital when requesting diagnostic tests and interpreting their results(AU)

Hemoglobinuria paroxística nocturna y absceso hepático: asociación poco frecuente / Paroxysmal nocturnal hemoglobinuria and hepatic abscess: A little frequent association

Resumen: La hemoglobinuria paroxística nocturna es un trastorno adquirido de las células madre hematopoyéticas que se caracteriza por episodios de hemólisis intravascular. Aunque es una enfermedad poco frecuente, afecta en su mayor parte a adultos jóvenes, sin distinción de sexo. Comunicamos el caso de un paciente de 32 años de edad, que acudió a consulta con cuadro clínico de palidez, ictericia, hemoglobinuria y dolor en el hipocondrio derecho. El estudio de citometría de flujo de médula ósea reportó la ausencia de marcadores CD55 y CD59, indicativos del diagnóstico de hemoglobinuria paroxística nocturna, además de una imagen tomográfica hipodensa en el hígado compatible con absceso. En la bibliografía médica éste es el primer caso en el que se describe la coexistencia de estas dos afecciones.

Abstract: Paroxysmal nocturnal hemoglobinuria is an acquired disorder of hematopoietic stem cells characterized by episodes of intravascular hemolysis. Although it is a rare disease, it mostly affects young adults, regardless of sex. We present the case of a 32-year-old man with acute symptoms of paleness, jaundice, hemoglobinuria and pain in the right hypochondrium. The study of flow cytometry of bone marrow reported the absence of CD55 and CD59 markers, diagnostic indicators of nocturnal paroxysmal hemoglobinuria in addition to a hypodense tomographic image in the liver compatible with abscess. In the medical literature, this is the first case in which the coexistence of these two medical conditions is described.