Supplements in Rare Bone Diseases

Abstract

Despite having different aetiologies, different rare bone diseases (RBDs) such as hypophosphatasia (HPP), autosomal dominant hypophosphatemic rickets (ADHR), X-linked hypophosphatemia (XLH) and osteogenesis imperfecta (OI) share common clinical features such as growth disturbances, pathological fractures, pseudo-fractures and chronic musculoskeletal pain. The role of micronutrients including minerals, trace elements and vitamin D in the physiological bone metabolism are well established. A significant share of RBD patients suffer from nutritional deficiencies due to the underlying disease or do not achieve the recommended daily intake (RDI) for micronutrients. The supplementation of micronutrients in RBDs should have the goal of achieving the RDI and promoting bone metabolism without increasing the burden of disease. Specific diets and an increased intake of specific micronutrients could potentially improve some of the disease symptoms, however special caution should be taken to avoid over-supplementation and to avoid adverse effects such as hypercalciuria, ectopic calcifications, GI-upset and nephrocalcinosis in case of calcium over-supplementation.

Zusammenfassung

Trotz unterschiedlicher Ätiologien weisen verschiedene seltene Knochenerkrankungen (RBDs) wie Hypophosphatasie (HPP), autosomal-dominante hypophosphatämische Rachitis (ADHR), X-chromosomale Hypophosphatämie (XLH) und Osteogenesis imperfecta (OI) gemeinsame klinische Merkmale auf, die Wachstumsverzögerung, pathologische Frakturen, Pseudofrakturen und chronische muskuloskelettale Schmerzen beinhalten. Die Rolle von Mikronährstoffen wie Mineralien, Spurenelementen und Vitamin D im physiologischen Knochenstoffwechsel ist gut belegt. Ein erheblicher Anteil der RBD-Patienten leidet unter Nährstoffdefiziten durch ihre Grunderkrankung oder erreicht nicht die empfohlene Tagesdosis (RDI) an Mikronährstoffen. Die Supplementation von Mikronährstoffen in RBDs sollte darauf abzielen, die RDI zu erreichen und den Knochenstoffwechsel zu fördern, ohne die Krankheitslast zu erhöhen. Spezifische Diätformen und eine erhöhte Aufnahme einzelner Mikronährstoffe könnten möglicherweise einzelne Krankheitssymptome verbessern. Es ist jedoch besondere Vorsicht geboten, um eine übermäßige Supplementierung und Nebenwirkungen wie Hyperkalzurie, ektopische Verkalkungen, Magen-Darm-Beschwerden und Nephrokalzinose, als Beispiel zu hoher Kalzium-Zufuhr, zu vermeiden.

Keywords

supplements - rare bone diseases - xlh - osteogenesis imperfecta - hypophosphatasia

Schlüsselwörter

Nahrungsergänzungsmittel - seltene Knochenerkrankungen - xlh - Hypophosphatasie - Osteogenesis Imperfecta

Publication History

Received: 13 March 2024

Accepted: 03 July 2024

Article published online:
19 August 2024

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