A familial case of Paget’s disease of bone with mutation at exon 8 of the sequestosome gene: Materials and methods

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We monitored for a long period 3 members of a family affected by polyostotic PDB at the Bone Metabolic Unit of the IRCCS Ospedale Maggiore di Milano. The members of this family were a woman (proband), her brother, their father and the brother’s daughter (Fig. 1).

Brother, sister and their father were visited since 1987. Diagno­sis of PBD was confirmed by X-rays, bone scintigraphy and bone markers measurements. Total alkaline phosphatase (AP) and its bone isoenzyme (BAP) were used to assess disease activity. The woman (VB), born in 1928, is affected by polyos­totic PBD, diagnosed in 1987, involving dorsal spine (D9, D11, D12) and left hemipelvis. She also presented a colloid goitre since 1989, developed in hypothyroidism in 2003 and treated with L-thyroxin (100 mg/day). A benign M-component hyper­gammaglobulinemia was diagnosed in 2002. VB underwent several courses of salmon calcitonin (sCT) till 1992 and there­after nine courses of bisphosphonates treatment (clodronate till 2001 and neridronate in 2002).

The brother (VG), born in 1942, is affected by polyostotic PBD diagnosed in 1980 involving skull, right occipital and parietal bone, lumbar spine (L3), left ulna and left hemipelvis. He re­ported a traumatic lumbar spine fracture (L1) in 1972 and a traumatic left olecranon fracture in 1980. Moreover, he under­ went a left hemicolectomy for a dysplastic adenoma in 2001. He was treated with several courses of sCT till 1989, and with 9 courses of clodronate thereafter.
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Figure 1 - Pedigree of the family

Figure 1 – Pedigree of the family. Black symbols indicate the affected PDB subjects (squares = males; circles = females). P indicates the proband.

Their father, born in 1901, had also polyostotic PBD, involving right proximal homerus, pelvis and proximal distal femoral epi- physis. He suffered ictus cerebri in 1986 with right hemiparesis. For PDB he underwent a single course of i.m. sCT for 4 months in 1987. He died in 1992 consequently to PDB’s car­diovascular complication.

VG’s daughter (VS), born in 1981, is not affected by PDB.