Hereditary isolated metatarsophalangeal arthritis

To describe a family with 13 members in four generations affected by early-onset isolated painful arthritis limited to the first metatarsophalangeal (MTP) joint but without evidence of generalized joint disease at follow-up.

A complete family pedigree was constructed and radiographs from the affected family members and their offspring were taken. Laboratory tests including serum measurements of C-reactive protein (CRP), urate, and rheumatoid factor (RF) were performed to exclude gout and rheumatoid arthritis from the diagnosis.

The age at onset of first MTP joint symptoms varied from 12 to 51 years. Both females and males were affected in the four successive generations, including male-to-male transmission as well as maternal inheritance. The affected patients were often treated surgically with good pain-relieving results.

To our knowledge, this is the first report of early-onset isolated foot metatarsal arthritis with apparent autosomal dominant inheritance.