Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression.

Fabry disease is an invalidating multisystemic disorder affecting α-Galactosidase, a rate-limiting hydrolase dedicated to lipid catabolism. Non-metabolized substrates, such as Globotriaosylceramide and its derivatives trigger the direct or indirect activation of inflammatory events and endothelial dysfunction. In spite of the efficacy demonstrated by enzyme replacement therapy or pharmacological chaperones in delaying disease progression, few studies have analyzed whether these treatments can improve the pro-inflammatory state of FD patients. Therefore, the aim of this work was to assess cytokines and cardiovascular risk-related proteins detectable in plasma from FD patients, whether treated or not with ERT, to evaluate the reliability of these markers in monitoring disease stage and treatment effects. We identified inflammatory and endothelial dysfunction markers (ADAMTS-13, TNF-α, GDF-15, MIP-1ß, VEGFA, MPO, and MIC-1) that cooperate in a common pathway and are increased in FD patients' plasma samples. As shown by the assessment of these proteins over time, they can help to evaluate the risk of higher severity in FD, as well as ERT effects. Even though the analyzed proteins cannot be considered as proper biomarkers due to their non-specificity to FD, taken together they can provide a signature of reference molecules with prognostic value for early diagnosis, and evaluation of disease progression and treatment efficacy, using blood samples.

Crohn's-like disease in a patient with common variable immunodeficiency treated with azathioprine and adalimumab.

Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency. It is characterized by recurrent bacterial infections, and occurrence of autoimmune and neoplastic diseases is also frequent; there is also a high prevalence of gastrointestinal diseases. There are reports of inflammatory bowel disease in this entity, but incidence is low (2-4 %). We present the case of a patient with common variable immunodeficiency suffering a chronic diarrhea episode and who was diagnosed with ileocaecal Crohn s-like disease after performing intestinal transit, CT abdomen and colonoscopy with biopsy. It was first treated with prednisone but on showing cortisone dependency, treatment with azathioprine and adalimumab was started, with good results.

Enfermedad de Crohn-like en un paciente con inmunodeficiencia común variable tratada con azatioprina y adalimumab / Crohn’s-like disease in a patient with common variable immunodeficiency treated with azathioprine and adalimumab

La inmunodeficiencia común variable (IDCV) es la deficiencia primaria de anticuerpos más frecuente. Se caracteriza por infecciones bacterianas recurrentes, siendo también habitual la aparición de enfermedades autoinmunes y neoplásicas. Existe una alta prevalencia de enfermedades gastrointestinales. Se han descrito casos de enfermedad inflamatoria intestinal en esta entidad, pero con baja incidencia (2-4 %). Presentamos el caso de un paciente con inmunodeficiencia común variable que presenta un episodio de diarrea crónica, siendo diagnosticado de enfermedad de Crohn-like ileocecal tras realizar tránsito intestinal, TC de abdomen y colonoscopia con toma de biopsias. Se inició tratamiento con prednisona, pero presentó corticodependencia, por lo que se inicio tratamiento con azatioprina y adalimumab, presentando buena respuesta (AU)

Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency. It is characterized by recurrent bacterial infections, and occurrence of autoimmune and neoplastic diseases is also frequent; there is also a high prevalence of gastrointestinal diseases. There are reports of inflammatory bowel disease in this entity, but incidence is low (2-4 %). We present the case of a patient with common variable immunodeficiency suffering a chronic diar - rhoea episode and who was diagnosed with ileocaecal Crohn s-like disease after performing intestinal transit, CT abdomen and colonoscopy with biopsy. It was first treated with prednisone but on showing cortisone dependency, treatment with azathioprine and adalimumab was started, with good results (AU)