Evidence on familial aggregation of Paget disease of bone shows that the trait is controlled by a single dominant gene. Due to the late onset of the disease, the primary biochemical abnormalities leading to the characteristic roentgenographic features are still unknown. We report the case of a 24-year-old woman who had an elevated serum alkaline phosphatase on routine analysis. Family history revealed that her father and paternal grandmother had Paget bone disease. This pattern is compatible with an autosomic dominant inheritance. Complete laboratory workup confirmed high heat labile alkaline phosphatase values, along with high serum osteocalcin and urinary hydroxyproline excretion. Skeletal x-ray and bone scan were negative. The 24-hour body retention of 99m Tcmethylenediphosphonate was elevated, suggesting high bone turnover. Dual photon densitometry of distal radius, femoral shaft, and lumbar spine revealed lower than normal bone density at all sites. The existence of a high bone turnover disease and osteopenia in a member of a family with high incidence of Paget disease might represent an abnormality linked to the "Pagetic trait," although an occasional association cannot be ruled out.
Agnusdei, Donato; Civitelli, Roberto; Camporeale, Angelo; and Gennari, Carlo
"Paget Bone Disease and Heredity: A Case Report,"
Henry Ford Hospital Medical Journal
: Vol. 36
Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol36/iss3/7