Deutsche medizinische Wochenschrift
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Dtsch. Med. Wochenschr. · Oct 2024
Review[Lysosomal storage disorders - Fabry disease and Gaucher disease].
Lysosomal storage disorders (LSD) are a heterogenous group of inborn errors of metabolism due to lysosomal malfunction. LSDs affect 1 in 5000 live births, albeit every LSD itself has a low incidence. The most common LSDs are Fabry disease and Gaucher disease. ⋯ The lysosomes play a key role in degradation and cellular recycling of macromolecules. Besides disturbance of cellular function, substrate accumulation may result in secondary toxic and/or inflammatory processes. For treatment of Fabry and Gaucher disease, several therapeutic approaches are approved including enzyme replacement therapy, chaperon therapy for Fabry disease and substrate reduction therapy for Gaucher disease.
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Hemochromatosis is a disorder of genetic origin which affects iron hemostasis, resulting in an increased transferrin saturation, hyperferritinemia and parenchymal iron overload. Recently, a new system for the classification of hemochromatosis has been proposed, wherein patients are separated into 4 groups, based on the disease affected iron regulatory genes. Excess iron and increased transferrin saturation results in the formation of non-transferrin bound iron which leads to tissue damage. ⋯ In order to provide ideal care for hemochromatosis patients, it is crucial to delineate hemochromatosis from other causes of hyperferritinemia, which is a common finding in patients with metabolic disorders. This article summarizes the diagnostic algorithm for hemochromatosis. Furthermore, recommendations for optimal care - including targets for phlebotomy - are discussed.
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Dtsch. Med. Wochenschr. · Oct 2024
Review[Laboratory diagnostics of autoimmune liver diseases in primary care settings - short review].
Elevated liver enzymes (ELE) are common in Germany. Primary care physicians are paramount in the early detection of liver diseases. The aim of this article is to provide an overview of autoimmune liver disease for primary care physicians (PCP) with a focus on laboratory diagnostics. ⋯ Laboratory diagnostics is the central step in the diagnosis of autoimmune liver diseases. However, general laboratory screening for ELE is not advisable. Rather, it is important to recognize, that no validated key figures are yet available for these markers in the primary care setting. The interpretation of these laboratory values is therefore complex. It is therefore advisable to consider determining these specific laboratory parameters, taking into account the common (and less common) causes that can lead to ELE.
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Dtsch. Med. Wochenschr. · Oct 2024
Review[Environmental diagnostics for venous thromboembolism - thrombophilia and tumor screening].
Inadequate treatment of venous thromboembolism can have fatal consequences that are often irreversible. If the indication is given, long-term therapeutic anticoagulation may be necessary to reduce the risk of recurrence for those affected. ⋯ A careful assessment of possible contributing factors is therefore essential. If uncertainty persists, comprehensive environmental diagnostics with regard to thrombophilia or cancer can be helpful.