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Nodal Osteoarthritis — SCE Rheumatology MCQ

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ModerateOsteoarthritisNodal OsteoarthritisSCE Rheumatology

A 50-year-old woman has bilateral hand pain with bony enlargement of multiple distal interphalangeal joints. She also has osteoarthritis affecting her knees and hips. Her mother and sister have a similar nodal hand phenotype. Which statement best describes the genetic architecture of common nodal/generalised osteoarthritis?

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Reveal the answer and explanation

Correct answer: A — It reflects complex polygenic susceptibility with strong familial aggregation, particularly evident in women

Explanation lettering: B = shown as A · C = shown as B · A = shown as C · E = shown as D · D = shown as E

The best answer is B. Common nodal/generalised osteoarthritis shows strong familial aggregation and substantial heritability, particularly in women, but its overall genetic architecture is complex and polygenic. UK twin studies estimated that genetic factors account for approximately 39–65% of variation in hand and knee osteoarthritis, while linkage studies of families with nodal osteoarthritis identified multiple phenotype-dependent susceptibility loci. It is therefore not entirely environmental (D) or an X-linked or autosomal recessive single-gene condition (A and C). Historical pedigree studies proposed sex-influenced dominant expression for the specific Heberden-node phenotype, but this does not justify describing common nodal/generalised osteoarthritis as a single autosomal dominant disorder with complete penetrance (E). Environmental and biomechanical factors also modify expression of the inherited susceptibility.

Reference: Greig C, Spreckley K, Aspinwall R, et al. Linkage to nodal osteoarthritis: quantitative and qualitative analyses of data from a whole-genome screen identify trait-dependent susceptibility loci. Ann Rheum Dis. 2006;65:1131–1138. https://pubmed.ncbi.nlm.nih.gov/16504993/