ABSTRACT
Introduction: Pulmonary alveolar proteinosis (PAP) is a disease characterized by the accumulation of lipoprotein-aceous material in the alveoli as a consequence of deficient processing of pulmonary surfactant. It is classified into primary, secondary, and congenital forms. Primary PAP (autoimmune origin) is characterized by the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF), while secondary PAP is due to multiple causes such as exposure to certain environmental substances. We present a case of a patient with probable mixed PAP, primary and secondary, due to exposure at the patient's workplace. Case presentation: A 35-year-old male patient attends the outpatient clinic of pulmonology due to symptoms of exertional dyspnea for one year. Pulmonary function tests are performed, and the chest X-ray reveals diffuse bilateral lung involvement with a ground-glass pattern. Incision and excision lung biopsy show findings compatible with predominant PAP in the left lower lobe (LLL). Additionally, a positive anti-GM-CSF antibody result is obtained. The patient is treated with bronchoalveolar lavage (BAL) and nebulized sargramostim. The patient shows satisfactory progress. Discussion: The clinical, analytical, radiological, and histological manifestations were compatible with the diagnosis of autoimmune PAP, and there was suspicion of secondary PAP due to exposure to rock wool. The role of the laboratory, in this case, was essential for the diagnostic confirmation of PAP by performing the determination of anti-GM-CSF antibodies.
ABSTRACT
Celiac disease (CD) is a systemic autoimmune pathological condition caused by the intake of gluten in genetically predisposed individuals. Despite its wide prevalence, it remains an underdiagnosed disease since a large percentage of individuals who suffer from the condition do not have the classic symptoms described for the disease. We present the case of a 43-year-old man with severe iron deficiency and asthenia. We found high levels of anti-transglutaminase and anti-endomysium antibodies, a severe intraepithelial lymphocytosis, 3A Marsh-Oberhuber classification upon gastroscopy and the presence of HLA-DQ2 and HLA-DQ8 heterodimers. The patient was diagnosed with CD and was placed on a gluten-free diet. After 19 months, an improvement in biomarkers of CD and other biochemical parameters was observed. A delay in the diagnosis of CD can produce nutritional deficiencies, such as iron deficiency which may not improve even with oral iron treatment. In similar clinical presentation, the laboratory can advance a diagnosis of CD.
ABSTRACT
BACKGROUND: Inflammatory bowel disease (IBD), including Crohn's disease and ulcerative colitis, is characterized by chronic relapsing intestinal inflammation. There are few data on the efficacy and safety in clinical practice of infliximab (CT-P13) in subcutaneous formulation (SC) for the treatment of patients with IBD. METHODS: Multicenter, prospective study of patients with IBD in clinical remission, who had their treatment changed from intravenous (IV) infliximab to SC. Two groups of patients were evaluated according to whether they were on IV infliximab treatment at standard or intensified doses before the switch. RESULTS: A total of 30 patients were on standard dosing and another 30 in intensified therapy. Treatment persistence in both groups at 6 months was greater than 95%. In both groups after the change, neither the biomarkers of inflammation nor the activity indices underwent significant changes at 3 and 6 months compared to the baseline value. Similarly, in both groups, infliximab trough levels showed a significant increase 3 and 6 months after the change to SC. No serious adverse events were registered. CONCLUSIONS: The CT-P13 SC brings a new anti-TNF era. Achieving much higher drug levels that are constant over time opens new paths to explore the management of patients with IBD: less immunogenicity, better perianal disease control and higher achievement of mucosal healing.
ABSTRACT
Anti-HMGCR, which was first identified in 2010, has emerged as an important mechanism of myopathogenesis in patients with exposure to statins. The availability of new detection methods has expanded the phenotypic spectrum with a subtype of population that hasn't been exposed to the drug and whose clinical, analytical, and pathological manifestations are similar. The observation by immunofluorescence of a highly specific pattern known as HALIP (HMGCR Associated Liver Immunofluorescence Pattern) can be useful in the detection of these antibodies.
