Deutsche medizinische Wochenschrift
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Dtsch. Med. Wochenschr. · Oct 2024
[Assisted suicide in Switzerland, a model in the international discussion about medical aid in dying: framework conditions and long-term development of a new societal and medical-ethical phenomenon].
In the observation period between 1999 and 2022, the Swiss Federal Statistical Office recorded 14 170 assisted suicide (AS) cases. During this 24-year period, the annual number of cases increased significantly: While only 63 cases were observed in 1999, the number of cases in 2022 amounted to almost 1600, corresponding to 2.1 % of all deaths in Switzerland. The most common underlying disease group for AS was cancer, accounting for 40 % of cases. AS is mainly chosen by women (unchanged over time at 58 % of cases) and is primarily a geriatric phenomenon: In 2022, the median age of those who opted for assisted dying was 81 years; the median age of those who chose AS due to cancer was 77 years, while the median age of those who died with non-cancer-related AS was 84 years.
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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.