Yonsei Med J.  2011 May;52(3):543-546. 10.3349/ymj.2011.52.3.543.

Effect of Zoledronic Acid on Acro-Osteolysis and Osteoporosis in a Patient with Hajdu-Cheney Syndrome

• Hwang S
• Shin DY
• Moon SH
• Lee EJ
• Lim SK
• Kim OH
• Rhee Y

• KMID: 1777031
• DOI: http://doi.org/10.3349/ymj.2011.52.3.543

Abstract

Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis. Although there are more than 60 reports published to date, proper treatment and subsequent outcome have been scarce. Herein, we report a progress of anti-resorptive therapy with zoledronic acid, in a woman with Hajdu-Cheney syndrome. Results suggest that anti-resorptive therapy may be important in delaying the progress of osteoporosis and preventing fractures, but not necessarily acro-osteolysis itself.

Keyword

Hajdu-Cheney Syndrome; osteoporosis; zoledronic acid

MeSH Terms

Acro-Osteolysis/complications/*drug therapy
Adult
Bone Density Conservation Agents/*therapeutic use
Diphosphonates/*therapeutic use
Female
Hajdu-Cheney Syndrome/complications/*drug therapy
Humans
Imidazoles/*therapeutic use
Osteoporosis/complications/*drug therapy

Figure

• 

  Fig. 1 Clinical photographs of the face (A) and hands and feet (B). Micrognathia is evident. Distal clubbing of the fingers and toes are noted. Iliac bone biopsy shows decreased bone volume and thin and widely separated trabeculae (C) with normal incorporation of tetracycline label (D).

• 

  Fig. 2 Initial and posttreatment radiographs of the lumbar spine and both hands and feet. Diffuse osteoporosis through the lumbar spine is noted (A). There is complete loss or scale-like residue of the distal phalanges in all fingers, and clubbing of the terminal tufts is seen (B). Subluxation of the metatarsophlangeal joint of the left second toe, osteolytic thinning of the left fifth metatarsal, and shortening of the proximal phalanges are seen (B). Follow-up radiographs 2 months after administration of the third dose of zoledronic acid shows nor osteoporosis or vertebral fracture, and dense end-plates represent the biphosphonate effect (C). Note progressive worsening of osteolysis affecting the middle phalanges of the fingers as well as the phalanges of the feet and peri-articular bone loss (arrowheads)(D).

• 

  Fig. 3 Changes in bone turnover and bone mineral density (BMD) in response to zoledronic acid. L-spine BMD decreased by 5.3% from 0.678 to 0.642 g/cm2 over 3 years; C-telopeptide was suppressed by 45.8% from 0.107 to 0.058 ng/mL over the first 2 years but increased to 0.167 ng/mL over the recent 1 year; and osteocalcin gradually decreased by 60.4% from 15.42 to 6.10 ng/mL during the follow-up period after 3 years of treatment.

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