Síndrome de activación macrofágica por COVID-19 en el adulto

The COVID-19 infection has a heterogenous disease course. It may be asymptomatic or paucisymptomatic. However, immunologic complications such as macrophage activation síndrome, resulting in cytokine storm syndrome, and acute respiratory distress syndrome, may also occur in some patients. We describe an atypical case of a 38-year-old man admitted to study in clinical suspicion of lymphoproliferative síndrome, whose final diagnosis was macrophage activation syndrome by COVID-19 infection without respiratory symptoms and an arterial thrombotic splenic event associated.La COVID-19 es una infección con un curso clínico heterogéneo. La mayoría de los casos se presenta asíntomática o paucisintomática. Sin embargo, algunos pacientes pueden desarrollar complicaciones inmunológicas como el síndrome de activación macrofágica, que resulta en una tormenta de citocinas, y el síndrome de distréss respiratorio agudo. Presentamos el caso atípico de un varón de 38 años que ingresa por sospecha de probable síndrome linfoproliferativo, con diagnóstico final de síndrome inflamatorio multisistémico en relación a infección vírica por COVID-19 sin afectación pulmonar, con evento trombótico arterial asociado a nivel esplénico

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Elosulfasa alfa; Qualitat de vida relacionada amb la salut; Síndrome de Morquio AElosulfasa alfa; Calidad de vida relacionada con la salud; Síndrome de Morquio AElosulfase alfa; Health-related quality of life; Morquio A syndromeBackground Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL). Results Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5–40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a median height of 118 (IQR: 106–136) cm. Other frequent clinical manifestations were hearing loss (75.7%), ligamentous laxity (72.7%), odontoid dysplasia (69.7%), limb deformities that required orthopaedic aids (mainly hip dysplasia and genu valgus) (63.6%), and corneal clouding (60.6%). In addition, 36.0% of patients had obstructive sleep apnoea/hypopnoea syndrome and 33.3% needed non-invasive ventilation. Cervical surgery and varisation osteotomy were the most common surgical interventions (36.4% each). Almost 80% of patients had mobility problems and 36.4% used a wheelchair at all times. Furthermore, 87.9% needed help with self-care, 33.3% were fully dependent, and 78.8% had some degree of pain. HRQoL according to the health assessment questionnaire was 1.43 (IQR: 1.03–2.00) in patients with the non-classical phenotype, but 2.5 (IQR: 1.68–3.00) in those with the classical phenotype. Seven patients were initiated on enzyme replacement therapy (ERT), but two of them were lost to follow-up. Lung function improved in four patients and slightly worsened in one patient. The distance achieved in the six-minute walk test increased in the four patients who could perform it. HRQoL was better in patients treated with elosulfase alfa, with a median (IQR) of 1.75 (1.25–2.34) versus 2.25 (1.62–3.00) in patients not treated with ERT. Conclusions The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams.BioMarin Pharmaceuticals España SL. funded the writing of this paper