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Bone metabolism in ochronotic patients
G Aliberti1, I Pulignano, A Schiappoli
1Dipartimento di Scienze Cliniche, Università di Roma La Sapienza, Rome, Italy.
Journal of Internal Medicine
|August 22, 2003
Summary
Ochronosis patients, excluding the youngest, showed reduced bone mass, indicating accelerated bone loss due to increased bone resorption. This skeletal involvement highlights potential ochronosis complications.
Area of Science:
- Endocrinology
- Rheumatology
- Metabolic Bone Disease
Background:
- Ochronosis is a rare metabolic disorder.
- Skeletal manifestations are not well-characterized.
- Homogentisic acid deposition affects connective tissues.
Purpose of the Study:
- To investigate skeletal involvement in patients with ochronosis.
- To evaluate bone mineral density and bone turnover markers.
- To understand the relationship between ochronosis and bone metabolism.
Main Methods:
- Dual-energy X-ray absorptiometry (DXA) for bone mineral density (BMD) measurement.
- Biochemical markers of bone resorption (urinary N-telopeptides of type I collagen) and formation (serum bone isoenzyme of alkaline phosphatase, serum osteocalcin) were assessed.
- Mineral metabolism parameters were evaluated.
Main Results:
- Seven patients (5 male, 2 female; aged 26-82 years) were studied.
- All patients except the youngest exhibited lower than normal bone mass at the femoral neck and total hip.
- Three patients had osteopenia, and three had osteoporosis.
- Lumbar spine BMD was overestimated due to calcification and osteophytes.
- Increased urinary excretion of N-telopeptides of type I collagen was observed.
Conclusions:
- Ochronosis is associated with increased bone resorption and accelerated bone loss.
- Homogentisic acid deposition may damage osteocytes and interfere with collagen metabolism.
- Further research is needed to elucidate the mechanisms of skeletal involvement in ochronosis.