Enfermedad de Wilson: consideraciones para optimizar el seguimiento a largo plazo / Considerations for optimizing Wilson's disease patients’ long-term follow-up

La enfermedad de Wilson es una patología genética multiorgánica causada por la acumulación excesiva de cobre en el organismo. La afectación hepática es la inicial y principal, y puede suponer desde una hepatitis leve y transitoria, hasta el debut en forma de cirrosis o insuficiencia hepática aguda grave. En el seguimiento, hasta un 20-30% de estos pacientes evolucionan a cirrosis hepática. En la práctica clínica, la monitorización de la fibrosis hepática se realiza mayoritariamente mediante métodos indirectos y no invasivos (analíticas, elastografía hepática, ecografías) a semejanza de otras hepatopatías crónicas más prevalentes. No obstante, a pesar de que la elastografía constituye una herramienta de gran valor, la evidencia de su utilidad en Wilson es muy limitada. En esta revisión se repasa la información disponible y sus limitaciones para el seguimiento de la enfermedad de Wilson.

Wilson's disease is a sistemic genetic disease caused by the excessive accumulation of copper. The first and main involvement is in the liver, which can range from mild and transient elevation of transaminases to the onset of an overt cirrhosis or acute liver failure. It is known that up to 20-30% of these patients may evolve to liver cirrhosis during follow-up. In clinical practice, liver fibrosis is assessed mainly by using indirect and non-invasive tools (laboratory tests, liver elastography, ultrasound), similar to other prevalent chronic liver diseases. However, despite the fact that liver elastography is a valuable tool in general hepatology, the evidence of its usefulness and accuracy in Wilsońs disease is scarce. This review summarizes the available scientific data and their limitations in Wilson's disease.

Considerations for optimizing Wilson's disease patients' long-term follow-up. / Enfermedad de Wilson: consideraciones para optimizar el seguimiento a largo plazo.

Wilson's disease is a sistemic genetic disease caused by the excessive accumulation of copper. The first and main involvement is in the liver, which can range from mild and transient elevation of transaminases to the onset of an overt cirrhosis or acute liver failure. It is known that up to 20-30% of these patients may evolve to liver cirrhosis during follow-up. In clinical practice, liver fibrosis is assessed mainly by using indirect and non-invasive tools (laboratory tests, liver elastography, ultrasound), similar to other prevalent chronic liver diseases. However, despite the fact that liver elastography is a valuable tool in general hepatology, the evidence of its usefulness and accuracy in Wilsons disease is scarce. This review summarizes the available scientific data and their limitations in Wilson's disease.

High-Resolution Esophageal Manometry in Myasthenia Gravis.

Myasthenia gravis (MG) is an autoimmune disease that affects the postsynaptic membrane at the neuromuscular junction. In MG, antibodies bind to acetylcholine receptors inducing muscle weakness. The weakness typically increases with exercise and repetitive muscle use. Improvement of muscular weakness after rest and/or administration of anticholinesterase drugs (edrophonium) are characteristic of MG. We report a patient with unexplained dysphagia, dysphonia, and dysarthria, whose diagnosis was suggested by high-resolution esophageal motility and edrophonium infusion. We highlight the importance of dysphagia as presenting or dominant symptom in MG and review the esophageal motility findings in this rare, but treatable disorder.

Diagnosis of Eosinophilic Enteritis With Video Capsule Endoscopy and Double Balloon Enteroscopy With Favorable Response to Corticosteroids.

Eosinophilic enteritis is a rare disease with nonspecific symptoms, often representing a diagnostic challenge. Video capsule endoscopy (VCE) has enabled examination of the full small bowel. However, capsule retention is an unfortunate complication. We present the case of a female patient admitted for abdominal pain. Appendectomy without resolution of symptoms was performed. A normal computed tomography and magnetic resonance imaging were obtained. The diagnosis was made by VCE and double balloon enteroscopy with biopsy. Asymptomatic capsule retention was resolved after corticosteroid therapy. The patient showed a favorable clinical and endoscopic response, confirmed through a second VCE after 3 months of treatment.

Meckel's diverticulum diagnosis by video capsule endoscopy: A case report and review of literature.

BACKGROUND: Meckel's diverticulum (MD) occurs predominantly in children and adolescents. It is rarely diagnosed in adults. Preoperative diagnosis is difficult due to low sensitivity of the radiological imaging studies. The role of video capsule endoscopy (VCE) in the diagnosis of MD is unknown, and the endoscopic patterns are not defined. We will describe four of our cases of MD evaluated with VCE and make a review of the literature focusing on the endoscopic characteristics. CASE SUMMARY: We present four cases of MD confirmed by surgery. They were all adult males with ages going from 18 to 50 years, referred to our service from 2004 to 2018, due to obscure gastrointestinal bleeding (OGIB). They had a history of 1 mo to 10 years of overt and occult bleeding episodes. Laboratory blood test showed an iron-deficiency anemia from 4 to 9 g/dL of hemoglobin that required multiple hospitalizations and blood transfusions in all cases. Repeated upper digestive endoscopies and colonoscopies were negative. Small bowel was examined with VCE, which revealed double lumen images in all cases, one with polyps and three with circumferential ulcers in the diverticulum. However, based on VCE findings, preoperative diagnosis of MD was suggested only in two patients. Capsule was retained in one patient, which was recovered with surgery. The anatomopathological report revealed ulcerated ectopic gastric mucosa in all cases. CONCLUSION: VCE is useful for the diagnosis of MD. However, endoscopic characteristics must be recognized in order to establish preoperative diagnosis.

Low Prevalence of Biopsy-Proven Eosinophilic Esophagitis in Patients with Esophageal Food Impaction in Mexican Population.

BACKGROUND: Eosinophilic esophagitis (EoE) is the most common cause of dysphagia and esophageal food impaction (EFI) in the USA, Western Europe, and Australia. In Mexico, the uncomplicated form of this disease is infrequent, and prevalence in patients with EFI is unknown. AIMS: To determine the prevalence and causes of EFI, endoscopic and therapeutic aspects, and establish the prevalence of biopsy-proven EoE in patients with EFI. METHODS: Diagnostic upper gastrointestinal endoscopy reports from January 2011 to December 2016 were retrospectively reviewed. Patients with therapeutic procedures, gastrointestinal hemorrhage, or non-food foreign body impaction were excluded. The number of patients with EFI was determined. Additionally, patients with esophageal biopsy were retained for EoE prevalence calculation. The diagnosis of EoE was defined with the presence of eosinophil infiltration count ≥ 15/high-power field with or without typical endoscopic abnormalities. RESULTS: A total of 4700 reports of the same number of patients were selected; 2209 were males (47%) with a mean age of 57.6 ± 12.3 years (range 14-93). We identified 36 patients with EFI (0.76, 95% CI 0.51-1.01), 16 males (44.4%) with a mean age of 54.9 ± 19.7 (range 22-92). Esophageal biopsies were obtained in 17/36 (47.2%) cases. The diagnosis of EoE was confirmed in 2 patients (11.7%). Peptic stenosis was the most frequent cause of EFI. CONCLUSIONS: EoE is an infrequent cause of EFI in the Mexican population (11.7%). EoE had the lowest prevalence compared to that reported in Caucasian populations. The prevalence of EFI was also low.