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Background: Cystic fibrosis (CF) is an autosomal recessive, chronic, potentially lethal genetic disease. CF manifestations are due to mutations in the CF transmembrane receptor transporter (CFTR) gene which codes for a protein (CFTR) that acts as an anion transporter, mainly chlorine, at epithelial cells where it is expressed. Cystic fibrosis related liver disease (CFRLD) includes a spectrum of hepatobiliary manifestations whose diagnosis and follow-up remains a challenge., Methods: Cross-sectional, descriptive study from 10 Spanish Cystic fibrosis Units. Clinical and biochemical data obtained. Patients categorized into 3 groups according to liver involvement based on ESPGHAN 2017 criteria. Liver stiffness assessed by transient elastography (TE) and findings from abdominal ultrasound recorded. Statistics performed using SPSS v25.0., Results: We obtained hepatic TE data from 155 pediatric CF patients. Forty-four classified as CFRLD, 38 (86%) had CFRLD without cirrhosis and 6 (14%) had cirrhosis. Fourteen patients without CFRLD (12%) had ultrasound abnormalities. Mean liver elastography value (kPa) was 4.7 (3.5-5.3) in non-CFRLD and 6.09 (4.4-6.7) in CFRLD (p=0.01;Tstudent [T])., Conclusions: CFRLD is common in children with CF. Transient elastography is a useful method for diagnosis and follow-up, as higher values of TE are found in patients with CFRLD., (Copyright © 2024 Elsevier España, S.L.U. All rights reserved.)

Background: Non-alcoholic fatty liver disease (NAFLD) is the most prevalent liver disease in developed countries and is considered the hepatic component of metabolic syndrome (MetS). Recently hypothyroidism has been associated with NAFLD but has never been studied in Spain., Objectives: To analyze the relationship between hypothyroidism (clinical and subclinical) and NAFLD. To determine the association between MetS with NAFLD and hypothyroidism., Methods: Cross-sectional, retrospective, population study in subjects ≥45 years from primary care centres in Catalonia included in the SIDIAP database. The data was collected between 2009 and 2013., Variables: socio-demographic data, comorbidities, toxic habits, physical examination, analytical tests and diagnosis of MetS. Descriptive analysis and application of statistical tests for the comparison of variables., Results: Sample of 10,116 individuals with a mean age of 61(10) and a predominance of females (63.6%). The prevalence of hypothyroidism was 9.1%, with no significant differences according to the presence of NAFLD (p=.631). Hypothyroidism was associated with higher triglyceride levels and a greater prevalence of obesity (p=.003). Greater alteration of AST was detected in individuals with elevated TSH (p=.012) and decreased levels of T4L (p=.037). Alterations in thyroid hormone levels were not associated with a higher prevalence of NAFLD (TSH p=.072 and T4L p=.447). Hypothyroidism was not considered a risk factor for the development of NAFLD (OR .75; 95% CI: .39-1.44; p=.38)., Conclusions: No association was found between hypothyroidism and NAFLD. Prospective studies are needed to clarify a possible relationship between these two diseases., (Copyright © 2019 Elsevier España, S.L.U. All rights reserved.)

The causes of sustained elevation of serum transaminases in asymptomatic adults, both hepatic and extrahepatic, are varied. In order to reach an aetiological diagnosis, a standardized protocol should be applied, aimed firstly at ruling out the most common causes, such as chronic hepatitis (viral or autoimmune), metabolic diseases, and toxic liver diseases. Several biochemical patterns, which take into account transaminase, cholestatic enzyme, muscle enzyme, ferritin and ceruloplasmin levels, as well protein electrophoresis and autoantibody measurement, will identify most causes. In cases in which a diagnosis cannot be reached with the use of these non-invasive methods, a needle liver biopsy will be justified., (Copyright © 2016 Elsevier España, S.L.U., AEEH y AEG. All rights reserved.)

The coexistence of autoimmune hepatitis and juvenile idiopathic arthritis is very rare. This is the case of an 18 month old female patient whose first sign of disease was torticollis due to an underlying atlanto-axial subluxation. Three months later, bilateral knee arthritis developed and she was diagnosed with Juvenile Idiopathic Arthritis. Throughout the disease a persistent elevation of liver enzymes was noted, combined with positive antinuclear antibodies and hypergammaglobulinemia, reaching the diagnosis of concomitant autoimmune hepatitis., (Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Objective: To evaluate which of the three studied strategies is the most effective to detect new cases of Hepatitis C virus (HCV) infections in primary care., Methods: This is an observational, prospective, and multicentre study evaluating three strategies. Strategy 1: provide an explanatory letter to adults assigned to two primary care teams (PCTs), inviting them to have a blood test. Strategy 2: place posters and leaflets in PCTs advertising the possibility of laboratory tests. Strategy 3: reexamine HCV antibody test results in patients with hypertransaminasemia diagnosed within the last two years through electronic records, and determine anti-HCV status in undiagnosed cases., Results: There were a total 598 participants (51% female with an average age of 50.6 ± 13 years). There were 238 people (4.1% of letters sent) in Strategy 1, 69 people (0.3% of potential participation) in Strategy 2, and 291 people (100% participation) from Strategy 3. One new case of HCV was found in both Strategy 1 and Strategy 2, representing a prevalence of 0.4 and 1.4%, respectively. Two new cases of HCV were found in Strategy 3, representing a prevalence of 0.7%., Conclusions: The three studied strategies for detecting new cases of HCV infection are ineffective, especially in regards to their cost and effort., (Copyright © 2013 Elsevier España, S.L. All rights reserved.)

Background: Liver enzyme (LE) elevation is a common finding in routine blood analysis. There is very little information on the most prevalent causes of these alterations in our population. In addition, a number of tests and several visits to the specialist are required to reach a diagnosis. For these reasons, we designed a protocol to streamline the evaluation of patients with LE elevations in a single-act office visit., Methods: From March 2008 until June 2010, we studied all patients with incidental LE elevation (isolated transaminase elevation, combined elevation of alkaline phosphatase [FA] and gamma-glutamyl transpeptidase [GGT], or isolated elevation of GGT) who were referred by their primary care physicians. At the time of referral, a complete biochemistry analysis was performed (LE, viral serology, autoantibodies, ceruloplasmin, iron metabolism, alpha-1-antitrypsin and thyroid hormones) and the patients underwent an abdominal ultrasound scan on the day of the office evaluation by the hepatologist., Results: A total of 427 patients were included in our study. The most common cause of transaminase elevation was non-alcoholic fatty liver disease (NAFLD) (40%), followed by alcohol intake (17%), and hepatitis C virus infection (13%). Elevated GGT levels were most commonly related to NAFLD (30%), closely followed by alcohol intake (27%), and hepatotoxicity (8%). Combined elevation of GGT and FA was associated with NAFLD (21%), alcohol (17%), and hepatotoxicity (11%). Self-limited elevation was seen in 9% of the patients and we could not identify a definite cause in 11%. A definitive diagnosis was reached in 79% of the patients., Conclusions: The single-act office visit has proven to be efficient, yielding a diagnosis in most of the patients. The most common cause of elevated LE was NAFLD. Transaminase elevation must be confirmed before a more thorough work-up is started., (Copyright © 2013 Elsevier España, S.L. and AEEH y AEG. All rights reserved.)