Hereditary disorders mimicking and/or causing premature osteoarthritis

Baillieres Best Pract Res Clin Rheumatol. 2000 Jun;14(2):219-50. doi: 10.1053/berh.2000.0063.


Osteoarthritis is the most common joint disease, causing considerable disability and impairment of quality of life. Hereditary osteochondrodysplasias and some inborn errors of metabolism may mimic or cause premature osteoarthritis. Osteochondrodysplasias usually cause joint deformities, such as coxa vara or genu varum, which can cause abnormal biomechanics. In most of these disorders, the articular cartilage is originally defective as a result of genetically determined collagen or matrix protein abnormalities, or the deposition of mucopolysaccharides. In the case of inborn errors of metabolism, the pathological process affects healthy articular structures, causing secondary osteoarthritis. In alkaptonuria, the pathological deposition of polymerized homogenistic acid causes defective changes in cartilage, articular capsule and tendons. In Wilson's disease, the premature osteoarthritis might be caused by the copper deposition. It is worth paying attention to these rare disorders, even when they are mild or incomplete, because early diagnosis can lead to prevention and effective treatment. In addition, research is discovering the specific gene defects and molecular abnormalities that are responsible for disease expression. This may in turn lead to opportunities for prenatal diagnosis; thus, genetic counselling and gene replacement therapy may be a realistic possibility in the near future.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Hepatolenticular Degeneration / pathology
  • Humans
  • Osteoarthritis / diagnosis
  • Osteoarthritis / etiology
  • Osteoarthritis / genetics*
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*