La enfermedad de Gaucher es un trastorno autosómico recesivo raro debido a la ausencia de la enzima glucocerebrosidasa, produciéndose acumulación de glucocerebrósidos en el sistema retículo endotelial. Se manifiesta por hepatoesplenomegalia, alteraciones hemáticas, neurológicas y óseas. Presentamos el caso de una paciente de 19 años de edad que ingresa por dolor abdominal generalizado, cansancio y debilidad, encontrándose hallazgos concordantes con una afectación infiltrativa en vertebras y ambas diáfisis femorales junto con necrosis avascular de ambas cabezas femorales. Se evidenciaron niveles de β glucosidasa disminuidos, y en el estudio genético se encontró la mutación p.Asn409Ser en homocigosis. La terapia de reemplazo enzimático logró normalización de cifras hematológicas al cabo de 6 meses y de tamaño de bazo e hígado al cabo de 1 año.
BackgroundThe most commonly used method for ANA detection is the indirect immunofluorescence test (IFI) on HEp-2 cells. Among ANA, anti-dense fine speckled (DFS) 70 antibodies produce a pattern (nuclear dense fine speckled) that can be confused with homogeneus or fine speckled pattern (typical of ANA-associated rheumatic disease, AARD). The presence of anti-DFS70 have been reported in a variety of clinical conditions. Isolated anti-DFS70 could be used as a differential marker for AARD.ObjectivesTo analyse the clinical significance of isolated anti-DFS70 antibodies.MethodsAll the serum samples obtained in our hospital between January 2017 to December 2018 that were positive for ANA testing and negative for anti-extractable nuclear antigen (ENA) antibodies panel, were tested for anti-DFS70 (HEp-2/DFS70 knock-out IFA, A.MENARINI diagnostics). Demographic and clinical data were collected from anti-DFS70 positive adult patients.ResultsFrom 145 samples tested 68 were found positive for monoespecific anti-DFS70: 82.4% were women and the median age was 55.4±14.4 years. The ANA titer was greater than 1/320 in all of cases and 26.5% of patients had two positive determinations DFS70 separated 15.4±9.2 months. The reasons for requesting ANA were diverse (arthralgias in 33.8% of the cases), and most of them were ordered from primary care. Clinical follow-up was performed in 66.1% of the patients for a mean of 2.9 years (between 2 months and 7 years). Only 3 patients (4.1%) had a defined AARD: 2 systemic lupus erythematosus and 1 antiphospholipid syndrome, diagnosed years before. There were 5 patients with rheumatoid arthritis (7.3%) and one had sarcoidosis. Nineteen patients (27.9%) had an organ-specific autoimmune disease: 14 autoimmune hypothyroidism, 2 autoimmune hepatitis, 2 primary biliary cholangitis and 1 immune thrombocytopenia. Six patients (8.8%) were followed up because of undifferentiated connective tissue disease (they did not meet criteria for AARD). Other clinical associations found were obesity (13.2%), depression (8.8%), sleep disorders (8.8%), fibromyalgia 5,8%, cancer, asthma and psoriasis (2.9% each one of them). Thirty-nine patients (57.3%) did not have any autoimmune disease (systemic or localized).ConclusionIn our experience, patients with monospecific anti-DFS70 ANA rarely present AARD, even though 42.7% of subjects showed autoimmune features. Rheumatoid arthritis patients occasionally had an isolated anti-DFS70 ANA. Therefore isolated anti-DFS70 may be potentially considered as marker of benign autoimmunity.References[1] Michael Mahler, Luis E. Andrade, Carlos A. Casiano, Kishore Malyavantham & Marvin J. Fritzler (2019): Anti-DFS70 antibodies: an update on our current understanding and their clinical usefulness, Expert Review of Clinical Immunology, DOI: 10.1080/1744666X.2019.1562903.[2] Bonroy C, Schouwers S, Berth M, Stubbe M, Piette Y, Hoffman I, et al.: The importance of detecting anti-DFS70 in routine clinical practice: comparison of different care settings. Clin Chem Lab Med 2018; 56:1090-9.[3] S...
BackgroundPresence of ramifications (RM) (capillaries from whose central axis lateral branches emerge) in the nailfold capillaroscopy is generally seen in patients with advanced microvascular damage and is a characteristic feature of scleroderma and dermatomyositis. Nevertheless they are also seen in patients without defined disease, so that it can be an inespecific finding whose potential role in the evolution of the patient is unclear.ObjectivesTo analyze the risk factors and the prognostic implications associated with the presence of RM in the capillaroscopy. Analyze the risk factors associated with RM in patients who we perform a capillaroscopic in our hospital.MethodsWe reviewed all the capillaroscopies performed in our systemic autoimmune diseases outpatient between January 2013 and December 2015. We reviewed the clinic and epidemiological characteristics, capillary pattern, diagnosis and evolution of all the patients and we analyzed their relation with the presence of RM.ResultsIn this period we performed a capillaroscopy to 226 patients, 48 (21.2%) of which had RM. In the RM group (39 women, 9 men), mean age was 51.38 years, with no significant differences in gender distribution and in age compared to the no-RM group (p 0.394 and 0.694 respectively). 78 of our patients were smokers (34.5%), 61 (27%) had history of arterial hypertension, 71 (31.4%) had hypercholesterolemia and 13 (5.8%) diabetes mellitus, with no differences between both groups (p 0.380, 0.265, 0.501 and 0.867 respectively).We found 6 patients with digital ulcers, any of them with RM (p 0.197). Patients with idiopathic thromboembolic disease were 5 (2.21%), only 1 with RM (p 0.466). 182 patients (80.5%) presented Raynaud's phenomenon (RP) with a mean duration of 8.59 years, 37 of which had RM (p 0.497). Among patients with RP in which the final diagnosis was primary RP (46, 20.53%) only 3 (6.25%) had RM (p 0.006). Patients that finally were diagnosed with any collagen vascular disease were 135 (59.73%), 37 of wich had RM (p 0.01). In this group 6 patients had systemic lupus erythematosus, 32 systemic sclerosis, 5 antiphospholipid syndrome, 6 Sjögren syndrome, 2 mixed connective tissue disease and 67 undifferentiated connective tissue disease. We found no differences between RM and no-RM groups separately analyzing each of these diagnoses (p 0.426, 0.466, 0.223, 0.191, 0.293 and 0.148 respectively).With respect capillaroscopic findings we found no correlation with the presence of dilatations (p 0.193), megacapilaries (p 0.418) or hemorrhages (p 0.888) but we did with other suggesting advanced microvascular damage as capillary loss (p 0.018) and presence of tortuosities (p<0.001) and with the sclerodermic capillaroscopic pattern (p 0.003).ConclusionsPresence of RM identifies patients at risk of secondary RP, especially with underlying connective tissue diseases. So, the presence of RM in patients with not clear diagnostic force us to have specially attention with them because they have risk to develop a connective tissue disease in the future...
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