The Netherlands journal of medicine
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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.
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We present a case of a patient with a chronic carbon monoxide (CO) intoxication with facial plethora due to secondary erythrocytosis. ⋯ 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.