Metabolische Knochenkrankheit: Osteomalazie

Zusammenfassung

Die Osteomalazie ist eine seltene Erkrankung des Knochenstoffwechsels, die mit einer verminderten Knochenmineralisation einhergeht. Ursächlich sind meist ein Vitamin-D-Mangel oder eine Störung des Phosphatstoffwechsels (sog. hypophosphatämische Osteomalazie). Leitsymptome der Osteomalazie sind dumpfe, lokalisierte oder auch generalisierte Knochenschmerzen, Muskelschwäche und -krämpfe sowie eine gehäufte Sturzneigung. Differenzialdiagnostisch müssen vor allem rheumatische Erkrankungen wie z. B. Polymyalgia rheumatica, rheumatoide Arthritis, Myositiden und Fibromyalgie-Syndrom ausgeschlossen werden. Im Labor sind eine Erhöhung der alkalischen Phosphatase sowie ein erniedrigtes Serum-Phosphat und/oder 25-OH-Vitamin D₃ für eine Osteomalazie wegweisend. Die Übergänge von einem Vitamin D-Mangel zur manifesten Osteomalazie sind fließend. In unklaren Fällen kann die Diagnose einer Osteomalazie durch eine Knochenbiopsie aus dem Beckenkamm gesichert werden. Die Therapie umfasst im Wesentlichen die Gabe von Vitamin D und Calcium, bei Resorptionsproblemen ggf. auch parenteral. Bei Phosphatverlust-Syndromen ist die Substitution von Phosphat meist Therapie der Wahl.

Abstract

Osteomalacia is a rare disorder of bone metabolism associated with reduced bone mineralisation. The most common causes of this disease are vitamin D deficiency and a disturbed phosphate metabolism (hypophosphataemic osteomalacia). Leading symptoms include dull localised or generalised bone pain, muscle weakness and cramps as well as an increased tendency to fall. Rheumatic diseases such as polymyalgia rheumatica, rheumatoid arthritis, myositis or fibromyalgia must be considered as a differential diagnosis. Alkaline phosphatase (AP) is typically elevated in osteomalacia, while serum phosphate and/or 25-OH vitamin D₃ levels are reduced. There is just a fine line between vitamin D deficiency and manifest osteomalacia. In cases of doubt, the diagnosis of osteomalacia can be confirmed by iliac crest bone biopsy. Treatment strategies include supplementation of vitamin D and calcium, both of which may also be given parenterally in patients with intestinal malabsorption syndromes. In renal phosphate-wasting syndromes, substitution of phosphate is the treatment of choice.

Schlüsselwörter

Osteomalazie - Rachitis - Vitamin-D - tumor-induzierte Osteomalazie (TIO)

Key words

osteomalacia - rickets - vitamin D - tumour-induced osteomalacia (TIO)

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