Deutsche medizinische Wochenschrift (1946)最新文献

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. For patients with a high risk of VTE recurrence, the long-term dosage of secondary drug prophylaxis is not yet clear - studies are currently underway. 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.

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 underlying cause mainly is an enzyme deficiency but may also be due to defects in transport or activation proteins, which result in progressive intra- and extra-lysosomal accumulation of undegraded storage material. 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.

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. On the other hand, there is an increased risk of bleeding due to continued anticoagulation, so an individual risk/benefit assessment is necessary. 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.

The post-thrombotic syndrome PTS occurs when a relevant residual thrombus load remains after a deep vein thrombosis and/or the function of the venous valves is disturbed. The knowledge of the different types of PTS generates individualized therapeutic and secondary prophylactic approaches. Immediate compression, movement in compression garments and an effective anticoagulation are crucial for both the prevention and the outcome of post thrombotic syndromes.

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.

Amyloidosis are rare protein misfolding and deposition diseases which, with very few exceptions, are treatable easily nowadays. The prognosis depends on the form of amyloidosis, which is particularly unfavorable for heart involvement that is diagnosed too late. Patients die within months to a few years or suffer irreversible loss of function of the affected organs. Once the diagnosis has been made, treatment should be started without delay. Amyloidosis centers offer support in the diagnosis and development as well as clinical trials of an optimal therapy concept.

Background and aims:  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.

Methods:  The national and international guidelines and review articles serve as a reference, supplemented by the current prevalence data from the German Zentralinstitut of the kassenärztliche Vereinigung (ZI).

Results:  In 2022, of the approximately 59 million PCP patients aged 20 years and older, around 50-60/100 000 received a confirmed diagnosis of autoimmune hepatitis or primary biliary cholangitis (according to ICD-10-GM diagnosis). The diagnoses were made 2 to 6 times more frequently in women than in men. Primary sclerosing cholangitis occurred in around 10/100 000 people treated by PCPs; women were affected up to twice as often, especially from the age of 60. Data on etiology, clinical, laboratory and diagnostic parameters, treatment options and prognosis data for the 3 disease entities are presented concisely in this article.

Conclusion:  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.