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.
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Review Case Reports
Monoclonal gammopathy with significance: case series and literature review.
Monoclonal gammopathy of undetermined significance (MGUS) is considered an asymptomatic precursor of malignant lymphoid disorders. This case series and literature review shows that these monoclonal gammopathies can cause significant morbidity. ⋯ Clinicians should be familiar with these consequences of monoclonal gammopathies. The term MGUS should only be used in patients without organ damage caused by monoclonal gammopathies.