Novel Hereditary Joint Disorder Identified
Syndrome characterized by cartilage friability and cartilage-bone debonding
FRIDAY, Sept. 30 (HealthDay News) -- A hereditary cartilage debonding syndrome has been described for the first time in a paper published in the October issue of Arthritis & Rheumatism.
Daniel Holderbaum, Ph.D., of Case Western Reserve University, Cleveland, Ohio, and colleagues described the symptoms of hereditary chondropathy affecting four family members -- a 49-year-old man and his three children. All four had arthropathy in the shoulder, hip and knee which commenced in childhood and continued into adulthood.
"All affected individuals showed clear similarities, including effusions, large loose bodies, and bubbling and delamination of the cartilage with exposure of subchondral bone," the authors write. The four family members also all experienced femoral head flattening and secondary degenerative arthritis.
Testing for single-nucleotide polymorphisms in the chromosome 2 region found no polymorphisms that were not also present in the general population, including unaffected members of the same family. "Further studies elucidating the mechanism leading to the delamination of cartilage from bone in this family may provide insights into cartilage-bone interaction in other forms of joint degeneration," the authors conclude.