Autoinflammatory & rare systemic diseases
Rheumatic manifestations of alkaptonuria: clinical, genetic and capillaroscopic characterisation of a referral centre cohort reveals new capillaroscopic marker of the disease
Authors' conclusion
This study is the first to document capillaroscopic changes in alkaptonuria patients, supporting the hypothesis of microcirculation damage in this disease and raising the question of a possible role of capillaroscopy as a diagnostic, prognostic, and disease monitoring tool in this condition.
Study context
- Population
- Alkaptonuria patients at a single referral centre (60 % female, mean age 54.4 ± 12.2 years)10 alkaptonuria patients
- Exposure
- Alkaptonuria patients vs healthy controls, primary RP and SSc
- Alkaptonurian = 10
- Outcome
- Capillaroscopic changes in alkaptonuria
Methodological detailssingle-centre, proof-of-concept
- Single-centre
- Proof-of-concept
Main finding
As reported in the abstract
Blue-blackish deposits suggestive of homogentisic acid accumulation, mostly not visible to the naked eye
6
Blue-blackish deposits in the three control groups
0
Atypical, non-specific capillaroscopic changes
9
Normal capillaroscopy
1
Observational data: associations, not effects.
Further findings
| Outcome | Prevalence | P value |
|---|---|---|
| Abnormally shaped capillariesAlkaptonuria vs Healthy controls | 70.0 % vs 20.0 % | P = 0.034 |
| Abnormally shaped capillariesAlkaptonuria vs Primary RP | 70.0 % vs 20.0 % | P = 0.034 |
| Dilated capillariesAlkaptonuria vs Primary RP | 50.0 % vs 13.3 % | P = 0.045 |
Clinical manifestations in alkaptonuria
- Skin and/or sclerae pigmentation
- All patients
- Musculoskeletal manifestations
- 90 %
Original publication
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