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)

• Literatur

• 1 Högler W, Munns CF. Rickets and osteomalacia: a call for action to protect immigrants and ethnic risk groups. Lancet Glob Health 2016; 4: e229-e230
• 2 Bischoff-Ferrari HA, Dawson-Hughes B, Staehelin HB. et al. Fall prevention with supplemental and active forms of vitamin D: A meta-analysis of randomised controlled trials. BMJ 2009; 339: b3692
• 3 Bischoff-Ferrari HA. Relevance of vitamin D in muscle health. Rev Endocr Metab Disord 2012; 13: 71-77
• 4 Erkal MZ, Wilde J, Bilgin Y. et al. High prevalence of vitamin D deficiency, secondary hyperparathyroidism and generalized bone pain in Turkish immigrants in Germany: identification of risk factors. Osteoporosis Int 2006; 17: 1133-1140
• 5 MacLaughlin J, Holick MF. Aging decreases the capacity of human skin to produce vitamin D₃ . J Clin Invest 1985; 76: 1536-1538
• 6 Chapuy MC, Preziosi P, Maamer M. et al. Prevalence of vitamin D insufficiency in an adult normal population. Osteoporosis Int 1997; 7: 439-443
• 7 Lips P. Vitamin D deficiency and secondary hyperparathyreoidism in the elderly: consequences for bone loss and fractures and therapeutic implications. Endocr Rev 2001; 22: 477-501
• 8 Holick MF. Vitamin D Deficiency. N Engl J Med 2007; 357: 266-281
• 9 Schilling S. Epidemic vitamin D deficiency among patients in an elderly care rehabilitation facility. Dtsch Arztebl Int 2012; 109: 33-38
• 10 Priemel M, von Domarus C, Klatte O. et al. Bone mineralization defects and vitamin D deficiency: histomorphologic analysis of iliac crest bone biopsies and circulating 25-hydroxyvitamin D in 675 patients. J Bone Miner Res 2010; 25: 305-312
• 11 Pinzone MR, DiRosa M, Malaguarnera M. et al. Vitamin D deficiency in HIV infection: an underestimated and undertreated epidemic. Eur Rev Med Pharmacol Sci 2013; 17: 1218-1232
• 12 Erben RG, Andrukhova O. FGF-23-Klotho signaling axis in the kidney. Bone 2016;
• 13 Elderman JH, Wabbijn M, de Jongh F. Hypophosphataemia due to FGF-23 producing B cell non-Hodgkin’s lymphoma. BMJ Case Rep 2016;
• 14 Jan De Beur SM. Tumor-induced Osteomalacia. JAMA 2005; 294: 1260-1267
• 15 Dadoniene J, Miglinas M, Miltiniene D. et al. Tumour-induced osteomalacia: a literature review and a case report. World J Surg Oncol 2016; 14: 4
• 16 Reginato AJ, Falasca GF, Pappu R. et al. Musculoskeletal manifestations of osteomalacia: report of 26 cases and literature review. Semin Arthritis Rheum 1999; 28: 287-304
• 17 Gifre L, Peris P, Monegal A. et al. Osteomalacia revisited. Clin Rheumatol 2011; 30: 639-645
• 18 Bingham CT, Fitzpatrick LA. Noninvasive testing in the diagnosis of osteomalacia. Am J Med 1993; 95: 519-523
• 19 Yu WJ, He JW, Fu WZ. et al. Reports of 17 Chinese patients with tumor-induced osteomalacia. J Bone Miner Metab 2016;
• 20 Wacker M, Holick F. Vitamin D – Effects on Skeletal and Extraskeletal Health and the Need for Supplementation. Nutrients 2013; 5: 111-148
• 21 Seufert J, Ebert K, Müller J. et al. Octreotide therapy for tumour-induced osteomalacia. N Engl J Med 2001; 345: 1883-1888