Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology
Authors' conclusion
Patients with HPP can present to rheumatology with musculoskeletal pain, and if a persistently low ALP is confirmed, this may reduce the diagnostic delay of this rare disease. Similar to other rheumatologic patients, musculoskeletal pain in HPP was noted in peripheral joints and in the spine with almost a third of patients having psoriatic arthritis. Pain was also noted in the long bones, a feature consistent with metabolic bone disease. The diagnosis of HPP was also more likely in those patients with a personal or family history of dental disease or arthritis.
Study context
- Population
- Patients presenting with musculoskeletal pain to general rheumatology clinic at St. George's Hospital, subsequently diagnosed with hypophosphatasia (HPP)
- Participants
- 14 patients
- Outcome
- Diagnostic delay and clinical features of HPP
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
- Median diagnostic delay
- 13 years
- ALP below reference range for age and gender
- all patients
- Lowest mean ALP
- 16 IU/L
- Women
- all but one patient
- Median age
- 51 years
- Peripheral joint pain (most common presentation)
- 85.7%
- Early-onset CPPD
- 71.4%
- Osteoarthritis (peripheral)
- 50%
- Bursitis
- 50%
- Axial pain due to osteoarthritis or spinal stenosis
- 64%
- History of long bone pain
- 50%
- Previous fracture(s)
- 50%
- Psoriatic arthritis (1 with spondyloarthropathy, 4 with enthesitis)
- 28.6%
Observational data: associations, not effects.
Original publication
Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology. Osteoporos Int. Published 28 April 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →