Netherlands Journal of Medicine最新文献

Porphyrias are rare metabolic disorders. Lack of awareness and knowledge about the clinical features of porphyrias results in diagnostic and therapeutic delays for many patients. Delays in diagnosing and treating porphyrias can result in severe, progressive morbidity (and mortality) and psychological distress for patients. This review discusses the pathophysiology, diagnosis, treatment, and follow-up of the most prevalent porphyrias: acute intermittent porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.

Introduction: We present a case of a patient with a chronic carbon monoxide (CO) intoxication with facial plethora due to secondary erythrocytosis.

Case details: A 22-year-old male was referred by the dermatologist to our outpatient clinic for evaluation of polycythaemia. Laboratory results showed secondary erythrocytosis. After an extensive diagnostic evaluation, we diagnosed a chronic CO intoxication (carboxyhaemoglobin (COHb) level of 21%) without apparent complaints and facial plethora as the only clinical sign. The patient denied smoking tobacco or use of illicit drugs. On inspection of his house by the fire department, a waterpipe was found in his bedroom, which he used daily, according to his father. CO measurements in the house were normal. We treated the patient with high flow oxygen and advised him to quit smoking the waterpipe. Within a few weeks, the erythrocytosis normalised.

Discussion: We propose to test for the presence of an elevated COHb in all patients with a normal or high erythropoietin level. The test is not expensive and can easily be included as part of an examination, since CO intoxication has potentially disastrous consequences, and, as is illustrated with this case, chronic CO poisoning can be virtually asymptomatic. Not all individuals consider smoking a waterpipe the same as smoking or drugs, and therefore physicians need to specifically ask for its use.

Purpose: To determine whether the use of salicylates is a predictive factor for detecting explanatory pathology during gastroscopy or colonoscopy procedures in patients with iron deficiency anaemia (IDA).

Methods: This retrospective study included patients who underwent a gastroscopy and/or a colonoscopyto determine the cause of IDA at Treant Healthcare, hospital location Scheper in Emmen, the Netherlands, between 2010 and 2016. The study compared two groups. The first group consisted of patients who were not taking antithrombotics at the time of, and during the last six months prior to, the endoscopy. The second group consisted of patients who used salicylates at the time of, and during the last six months prior, to the endoscopy. Data were collected on whether and which explanatory pathology was found in the endoscopic evaluation.

Results: In total, 464 patients were included, of whom, 174 were using a salicylate and 290 were not. In 41.2% of the patients, explanatory pathology was found, which was not significantly different between the two groups with univariate analysis (p = 0.207). However, the patients in the group of salicylate users were significantly older and more often male. When correcting for these differences in group characteristics during multivariate analysis, the use of salicylates was found to be a negative predictive factor for finding explanatory pathology (p < 0.001; OR 2.307).

Conclusion: When determining the chance of finding explanatory pathology during endoscopic evaluation in patients with IDA, the use of salicylates should be taken into account as a negative predictive factor for finding explanatory pathology during endoscopic evaluation.