Varusfehlstellung der linken unteren Extremität als Ursache für eine Meniskusläsion des Innenmeniskus-Hinterhorns bei einer Patientin mit Morbus Paget des Knochens

We report on a 42-year-old woman who presented with persistent pain in her left knee with no history of trauma. Sagittal T1-weighted MRI of the left knee showed discontinuity between the anterior and posterior horns of the left medial meniscus, causing effectively the development of degenerative lesion of the posterior horn. The latter was correlated to varus deformity of the left lower extremity associated with subsequent narrowing of the medial knee joint. The unusual craniofacial contour of the patient, the skeletal survey and the elevated serum alkaline phosphatase were compatible with the diagnosis of Paget's disease of the bone. To alleviate the adverse effect of the mal-alignment of the left femur onto the left knee, corrective osteotomy of the left femoral diaphysis by means of fixators was performed. To the best of our knowledge this is the first clinical report describing the management and the pathological correlation of a unilateral varus deformity of the femoral shaft and degenerative lesions of the left knee in a patient with Paget's disease of the bone.Wir berichten über eine 42 Jahre alte Frau mit persistierenden Schmerzen im linken Knie bei negativer Trauma-Anamnese. In den sagittalen T1-gewichteten MRT-Aufnahmen des linken Knies zeigte sich eine Diskontinuität zwischen vorderem und hinterem medialen Meniskushorn. Degenerative Veränderungen des Hinterhorns traten gleichzeitig mit Verschmälerung des medialen Kniegelenkspaltes in Zusammenhang mit einer Varus-Deformität der linken unteren Extremität auf. Die auffallend veränderte Schädelform und die Gesichtszüge vervollständigten gemeinsam mit den erhobenen Röntgenbefunden und der erhöhten alkalischen Phosphatase das Bild eines Morbus Paget des Knochens. Um weitere negative Auswirkungen der Varusachse auf das linke Knie zu vermeiden, erfolgte eine diaphysäre Korrekturosteotomie des linken Femurs mit Anlage eines unilateralen, externen Fixateurs.Bei dieser Fallpräsentation handelt es sich unseres Wissens nach um die erste Beschreibung von Klinik und Therapieverlauf bei einem Patienten mit Morbus Paget mit Varus-Deformität des Femurschafts und degenerativen Veränderungen des Knies

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia

X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients' experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease