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An overview on bone manifestations in Gaucher disease

Eine Übersicht zu Knochenmanifestationen bei Morbus Gaucher

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Zusammenfassung

Morbus Gaucher (GD), die häufigste lysosomale Speichererkrankung, ist eine multisystemische Erkrankung. Die nicht-neuronopathische Form (Typ 1) des GD führt unbehandelt zu Hepatosplenomegalie, Anämie, Thrombozytopenie, Blutungskomplikationen, verschiedenen Veränderungen im Skelettsystem, Wachstumsverzögerung in der Jugend und selten auch zu einer Lungenbeteiligung. Bei GD sind Veränderungen am Skelettsystem häufig und können in deren Ausprägung stark variieren. Die skelettalen Veränderungen umfassen Knocheninfarkte, avaskuläre Knochennekrosen, lytische und sklerotische Läsionen, osteoporotische Frakturen, sowie in seltenen Fallen eine akute Osteomyelitis. Unterschiedlich starke Knochenschmerzen, Frakturen und progrediente Gelenksdestruktionen stellen häufige Ursachen für eingeschränkte Mobilität, erhöhte Morbidität und eingeschränkte Lebensqualität dar. Sowohl die Enzymersatztherapie als auch die Substratreduktionstherapie zeigten positive Auswirkungen auf die Häufigkeit von Knochenschmerzen, Knochenkrisen und die Entstehung von Osteoporose. Der Artikel gibt eine Übersicht zu den einzelnen knöchernen Manifestationen bei GD, den aktuell angenommenen pathophysiologischen Mechanismen der Knochenveränderungen, den diagnostischen Untersuchungsmöglichkeiten sowie zu Studienergebnissen zur Enzymersatztherapie, Substratreduktionstherapie und spezifischen osteologischen Therapien in Bezug auf die Knochenveränderungen.

Summary

Gaucher disease (GD), the most prevalent lysosomal storage disorder, affects multiple organ systems. Patients with non-neuronopathic (type 1) GD, the most common form of GD, present with hepatomegaly, splenomegaly, anemia, bleeding tendencies, thrombocytopenia, skeletal pathologies, growth retardation, and, in severe cases, pulmonary disease. The bone manifestations include bone infarcts, avascular bone necrosis, lytic lesions, osteosclerosis, fractures due to osteopenia or osteoporosis, and rarely acute osteomyelitis. Bone pain of varying intensity, fractures, and progressive joint collapses may cause impaired mobility and performances status, and increased morbidity. Enzyme replacement therapy and substrate reduction therapy have demonstrated to have beneficial effects on bone pain, bone crises, and the extent of osteoporosis. This review article gives an overview of the clinical appearance of bone pathology in GD, the possible pathophysiological mechanisms, diagnostic approaches, and the therapeutic effects of enzyme replacement therapy, substrate reduction therapy, and bone specific therapies as evaluated in current literature.

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  1. Department of Internal Medicine I, State Hospital Klagenfurt, Klagenfurt, Austria

    Peter Mikosch

  2. Lysosomal Storage Disorder Unit, Department of Academic Haematology, Royal Free and University College Medical School, London, United Kingdom

    Derralynn Hughes

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Mikosch, P., Hughes, D. An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr 160, 609–624 (2010). https://doi.org/10.1007/s10354-010-0841-y

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