Hereditäres periodisches Fieber

Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D periodic fever syndrome (HIDS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are hereditary periodic fever syndromes. FMF is caused by mutations in the Mediterranean fever gene, HIDS by mutations in the mevalonat-kinase gene, and TRAPS by mutations in the TNF-receptor superfamily 1A gene. Impaired function of the encoded proteins, i.e. pyrin in FMF, mevalonat-kinase in HIDS, and the p55 TNF-receptor in TRAPS, induces a dysregulated cytokine balance. Clinical manifestations are relapsing fever, serositis, arthralgia, myalgia, and miscellaneous forms of rash. The diagnosis is made through moleculargenetic analysis of mutations of the MEFV-gene (FMF), MVK-gene (HIDS), or TNFRSF1A-gene (TRAPS). Colchicine is the therapy of choice in FMF. HIDS is treated symptomatically. Impaired TNF-alpha regulation in TRAPS can be treated with etanercept.     

Rheumatologie im G-DRG-Fallpauschalensystem

On June 27 2000, the German Self-Administration and lately the German Ministry of Health set the general conditions for a new reimbursement system for the inpatient hospital sector which is based nearly exclusively on lump-sum payments. The Association of Acute Rheumatology Hospitals (VRA) and the DRG-Research-Group, Münster University Hospital, conducted a multi-center trial which included 7266 cases from 22 different hospitals. The data were used to analyze how well the not yet German healthcare adjusted G-DRG system (version 1.0) accounts for rheumatologic diagnostics and treatment as well as problems of specialized hospitals. 7 Adjacent-DRGs covered 91% of all cases, 68% of all cases were grouped into only two different Adjacent-DRGs (169 Bone Diseases and Specific Arthropathies and 166 Other Connective Tissue Disorders). Groups with different complexity which are not appropriately covered by the existing G-DRG system could be identified. The data further revealed a systematically longer length of stay in rheumatology clinics opposed to the average length of stay in the data used for calculating the G-DRGs, due to different structures and procedures of the complex rheumatologic treatment. The results strongly supported the assumption that an accurate reimbursement of rheumatologic cases in the current G-DRG system 1.0 would not have been possible. Adaptations made in the new G-DRG Version 2004 can only partly solve these problems, despite an improved construction of the DRGs. In order to guarantee an appropriate reimbursement of rheumatology clinics from 2005 on, the G-DRG system must be adapted to specific rheumatological pathways and/or alternative or additional reimbursement systems have to be found.     

67-jährige Patientin mit rezidivierenden Hypoglykämien

A 67 year old female patient was admitted to our clinic with recurrent hypoglycemia in December 2006. Laboratory findings revealed an elevated insulin, and C-peptide. Imaging techniques revealed a tumor of the pancreas involving the spleen with metastases of the liver, expressing somatostatin receptors. Ultrasound-guided biopsy was performed and confirmed the suspected insulinoma. Since the hypoglycemias could not sufficiently be controlled by subcutaneous administration of octreotide and by oral glucose intake, surgical debulking was performed in a palliative intention. After resection the patient was free of hypoglycemia. In case of diagnosed insulinoma, underlying MEN (multiple endocrine neoplasia) should be considered. Excision of the tumor is recommended in patients with benign solitary insulinomas. If complete excision is impossible, there are several therapeutic options that aim at preventing hypoglycemia. Thus, in contrast to other extended tumors, surgery is reasonable in malignant insulinoma even in case of metastatic disease.     

Resistenzen gegenüber medikamentöser Tumortherapie

In the past multiple mechanisms could be identified that are involved in anticancer drug resistance; however, diagnostic assays for prediction of therapy response to classical cytostatic drugs did not enter routine clinical diagnostics. Only when new targeted drugs, e.g. tyrosine kinase inhibitors or therapeutic antibodies, were introduced in oncology were diagnostics for prediction of therapy response routinely preformed. First and foremost this was the result of the development of highly standardized techniques, i.e. exact mutation analysis in functional relevant codons of genes encoding signal proteins of cancer-related signal transduction pathways targeted by the new drugs. Due to increasing costs of health systems, in the future predictive diagnostics will probably become more and more important. Therefore, it will be necessary to develop improved diagnostic assays for prediction of individual therapy response.