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Juvenile idiopathic arthritis (JIA) is a heterogeneous group of arthritis of autoimmune aetiology. Systemic-onset juvenile idiopathic arthritis (soJIA) presents with fever, transient erythematous rash, hepatomegaly, splenomegaly, lymphadenopathy, and serositis. SoJIA presents multiple complications, and the most severe is the macrophage activation syndrome (MAS); the timely treatment of MAS must be established early and aggressively to avoid a fatal outcome. Therapeutic plasma exchange has anecdotally been used in refractory cases. A 66-month-old male with a 1-year illness characterized by evening-predominant, intermittent fever, adenomegalies, urticarial-like rash, arthralgia, and arthritis. Biochemical analysis revealed anaemia, leukocytosis, neutrophilia, hypertriglyceridemia, hyperferritinemia, and hypofibrinogenemia; bone marrow aspirate showed hemophagocytosis. He was diagnosed with SoJIA complicated with MAS. He received multiple treatments with IV human gammaglobulin, cyclosporine, dexamethasone, and tocilizumab without improvement. Plasma replacement treatment was performed. Afterwards, he presented significant improvement. After 3-year-follow-up, he remains in good general condition. We present a refractory case of soJIA complicated with MAS successfully treated with plasma exchange.

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Introducción. El síndrome de Hermansky-Pudlak es un padecimiento genético caracterizado por albinismo y hemorragias, en grado variable, por alteraciones en la estructura de las plaquetas. Puede presentar alteraciones pulmonares, intestinales o renales. En la literatura se han reportado varias alteraciones genéticas relacionadas a este síndrome. Casos clínicos. Se presentan dos casos. El primero se trató de un adolescente de sexo masculino con albinismo mucocutáneo y afección a nivel renal. Los episodios de sangrado iniciaron después de ser sometido a venopunciones y estudios invasivos. Desarrolló, incluso, un hematoma perirrenal. Después de una sepsis de foco abdominal, presentó hemoperitoneo y hemorragia pulmonar, que precipitó su muerte; el diagnóstico se realizó post mórtem. El segundo caso se trató de una paciente de sexo femenino en quien, desde el periodo de lactancia, se identificó el síndrome por el albinismo mucocutáneo, los episodios de sangrado y los datos de fibrosis pulmonar progresiva, lo que ha limitado su capacidad vital. Conclusiones. El diagnóstico del síndrome, así como el abordaje correcto y temprano pueden evitar el desarrollo de complicaciones o limitar su evolución. Aún es materia de debate si las alteraciones genéticas descritas se asocian a la expresión de alguna manifestación clínica particular.

Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported. Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient's death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity. Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.