Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single-Center Study 2023 Injean et al

Abstract

Objective
Hypophosphatasia (HPP) is a rare disease characterized by incomplete or defective bone mineralization due to a mutation in the alkaline phosphatase (ALP) gene causing low levels of ALP. Disease presentation is heterogeneous and can present as a chronic pain syndrome like fibromyalgia (FM). Our objective was to determine if there are any potential patients with HPP in the group of patients who were diagnosed with FM. Antiresorptive therapy use can trigger atypical femur fractures in patients with HPP.

Methods
We performed a retrospective chart review of all patients 18 years or older at a single academic center who were diagnosed with FM and had either a low or a normal ALP level. The following characteristics were reviewed: biological sex; age; history of fractures; diagnosis of osteoporosis, osteopenia, osteoarthritis, and chondrocalcinosis; genetic testing; vitamin B6 level testing; and medications.

Results
Six hundred eleven patients with FM were identified. Two hundred had at least one low ALP level, and 57 had at least three consecutively low measurements of ALP, 44% of which had a history of fractures. No patients had vitamin B6 levels checked. None of the patients had previous genetic testing for HPP or underwent testing for zinc or magnesium levels.

Conclusion
The percentage of patients with FM who were found to have consistently low ALP levels was 9.3%. None had vitamin B6 level or genetic testing, suggesting that the diagnosis was not suspected. It is important to diagnose HPP given the availability of enzyme replacement therapy to prevent complications from HPP such as fractures. Our data support screening for this condition as a part of the initial workup of FM.

Open access, https://acrjournals.onlinelibrary.wiley.com/doi/10.1002/acr2.11591

 

That great for the people who were identified as having this condition isn’t it, they otherwise would of languished until complications really escalated and probably even after that.

 

Thanks @Hutan. I only read conclusion of above post. I hope these study results get out and patients start demanding genetic testing. I know there isn’t capacity but only way to increase it is like loud demand.

 

I don’t know what ALP is really having only just been prompted to think about it. Why do Drs order tests for it generally?

 

I was diagnosed with this, but as far as I know it's the form that only affects teeth. It was suspected when I started losing some of my permanent teeth in my teens.

I'm going back decades, so there were no genetic tests, only X-rays. I've only become aware comparatively recently that there are other types; for most of my life I just thought it was a weird dental condition that my dad and I had.

 

Thanks. We've looked in UK Biobank data and don't see low alkaline phosphatase levels on average. If anything it might be slightly higher.