Deutsche medizinische Wochenschrift
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Despite declining numbers - older people in particular - often die from pulmonary embolism. A rapid assessment of the risk in the event of a suspected embolism, the exclusion of comorbidities and the appropriate therapy are the focus of the current guidelines. Early and subsequent outpatient treatment of a patient with acute PE generally requires 3 criteria: low risk of early complications, the absence of serious comorbidities and the highest possible safety at home and, in the event of a complication, rapid access to acute care in the hospital. ⋯ In patients at moderate risk of VTE recurrence, low-dose secondary prophylaxis can be used to reduce the risk of bleeding. Outpatient pulmonary embolism follow-up care is becoming increasingly important, because studies have shown several times that serious long-term consequences can occur. In pulmonary embolism patients with persistent dyspnea, reduced performance or risk of CTEPH, an outpatient evaluation of the right ventricle using echocardiography, if necessary, in combination with the determination of natriuretic peptides or spiroergometry, is recommended.
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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.