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Tendons Involvement in Congenital Metabolic Disorders

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Metabolic Influences on Risk for Tendon Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 920))

Abstract

Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement.

Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronary artery disease, and may develop tendon xanthomata (mainly in Achilles tendon). The detection of xanthomata is important, because it allows an early diagnosis and treatment of the disorder. Cerebrotendinous Xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism, characterized by accumulation of cholestanol in brain and tendons. Tendon abnormalities are similar to those reported in Heterozygous Familial Hypercholesterolaemia. Alkaptonuria is caused by a deficiency of the enzyme homogentisic acid oxidase. Due to the accumulation of the homogentisic acid, tendons and ligaments are characterized by a typical ochre/yellow pigmentation (ochronosis), with ensuing inflammation, calcification and rupture. In Congenital Hypergalactosemia an increased tendon collagen cross-linking by non-enzymatic galactosylation can be observed. Finally, Congenital Hypophosphatasia may be associated to deposition of hydroxyapatite crystals in rotator cuff, elbow, and Achilles tendons.

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Authors and Affiliations

  1. Department of Medicine and Science of Aging, University G. d’Annunzio, Via dei Vestini 31, Chieti-Pescara, 66013, Chieti Scalo (CH), Italy

    Michele Abate & Vincenzo Salini

  2. Regenerative Medicine Laboratory, BioCruces Health Research Institute, Cruces University Hospital, 48903, Barakaldo, Spain

    Isabel Andia

Authors
  1. Michele Abate
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  2. Vincenzo Salini
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  3. Isabel Andia
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Correspondence to Michele Abate .

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Editors and Affiliations

  1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

    Paul W. Ackermann

  2. McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, Alberta, Canada

    David A. Hart

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Abate, M., Salini, V., Andia, I. (2016). Tendons Involvement in Congenital Metabolic Disorders. In: Ackermann, P., Hart, D. (eds) Metabolic Influences on Risk for Tendon Disorders. Advances in Experimental Medicine and Biology, vol 920. Springer, Cham. https://doi.org/10.1007/978-3-319-33943-6_10

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