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General FAQs / Re: Hip Replacement
« Last post by Sunindiya12 on February 14, 2020, 05:25:10 PM »
Hi Yasmin,

I am the person Gin is referring to. I lost range of motion in my hips and was experiencing a lot of pain by the time I turned 30. My doctor sent me to Yale to their XLH center to consult with the experts, and they found a pediatric orthopedic surgeon who did a specialized hip surgery he had only done once before, where he basically cut through my femur to get to my hip joint and scraped out as much of the calcification as he could and then put screws in my femur to put it back together. It took me 1.5 years including physical therapy and two surgeries to recover from and I actually didn't regain full range of motion and still get some pain though it is much more bearable. If I had to do it over again, I would opt for a hip replacement even though I'd likely have to get 2-3 in my lifetime. However, if you are considering a hip replacement you need to see a surgeon who is familiar with XLH because they are way more complicated, between our bone structure/composition and the time it takes our bones to heal. A lot of the standard replacement joints don't work on us. I am now 38 and know I will need both hips replaced soon.

Good luck!
General FAQs / Re: Hip Replacement
« Last post by GinJones on February 14, 2020, 04:50:33 PM »
I'm much older than that and haven't had my hips replaced, although I was advised to when I was around 50. As it turned out, the problem wasn't actually with my hip joint, but with calcification of soft tissue around the joint. I do know of one person who needed hip joint replacements in her thirties, but I believe, if I remember correctly, the doctors advised against it because of her age. Let me see if I can find out more from her.

Make sure your doctor has experience with XLH, and perhaps consider getting a second opinion. Doctors who haven't dealt with XLH patients before are often surprised by what they find once they cut us open, and that's never good!

Also, I'm not sure if you know, but it's generally recommended that you should be on  treatment (either phosphorus and calcitriol supplements or burosumab, and, personally, I'd want to be on burosumab, since it does demonstrably better at healing bones) for several months before surgery, as well as during the healing period.

I'm hoping that when the natural history study (a collaboration among the Network, Ultragenyx and Yale) launches, we'll start to get more data on when patients are getting joint replacements. The last I knew, asking about that was in the study. We know joints are being replaced earlier than the general population, but we don't know exactly how early.
General FAQs / Hip Replacement
« Last post by YasminBoatman on February 14, 2020, 03:19:15 AM »
Hi I am 33 yrs old and have had xlh rickets all my life. I was just told I need both hips replaced. I was just wondering has anybody else been through this surgery at a young age?
Welcome / Re: XLH Dental brochures
« Last post by GinJones on January 26, 2020, 03:23:10 PM »
Research into dental issues of HYP mice (the mouse model for XLH). It's a bit too advanced science for me, but it appears to confirm in mice what we've observed in human teeth. Here's how they describe the study:

This study reports for the first time a quantitative analysis of the Hyp mouse dentoalveolar phenotype, including all mineralized tissues.

While it's not all that patient-friendly, your dental professional might find it informative:
"Dentoalveolar Defects in the Hyp Mouse Model of X-linked Hypophosphatemia" J. Dent Res 2020

You can read the abstract here:
General FAQs / Re: Overview of XLH symptoms in children
« Last post by GinJones on January 10, 2020, 07:44:51 PM »
A new resource for understanding XLH and discussing it with your family and clinicians: https://primeinc.org/xlh?utm_source=xlhnetwork&utm_medium=website&utm_campaign=xlh_77pr191
General FAQs / Re: Overview of XLH symptoms
« Last post by GinJones on January 10, 2020, 07:43:56 PM »
A new set of resources for discussing your condition and symptoms with family and clinicians: https://primeinc.org/xlh?utm_source=xlhnetwork&utm_medium=website&utm_campaign=xlh_77pr191
Welcome / Re: XLH Dental brochures
« Last post by GinJones on September 20, 2019, 10:53:38 PM »
To support and supplement the brochure, here are some journal articles relevant to dental issues:

1. Treatment considerations:

"Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease." (by Thomas Carpenter, et al., J Clin Endocrinol Metab. 2015 Oct) http://www.ncbi.nlm.nih.gov/pubmed/26176801
"Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy."
(Commentary on the above article, by Michael Econs, MD, J Clin Endocrinol Metab. 2015 Oct) http://www.ncbi.nlm.nih.gov/pubmed/26439151

"Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia." J. Dent. Res. November 2016
https://www.ncbi.nlm.nih.gov/pubmed/27821544  Key portion of abstract: "We observed that periodontitis frequency and severity were increased in adults with XLH and that the severity varied according to the hypophosphatemia treatment. Patients who benefited from an early and continuous vitamin D and phosphate supplementation during their childhood presented less periodontal attachment loss than patients with late or incomplete supplementation. Continued hypophosphatemia treatment during adulthood further improved the periodontal health."

"Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia." Head Face Med 2019
Conclusion: "The majority of the study participants reported oral involvement in the context of XLH, especially dental hard tissue mineralisation disorders, abscess formation and fistula formation. Those individuals affected by XLH with oral manifestations exhibited a tendency toward a worse OHRQoL [Oral Health-related Quality of Life] than those without oral symptoms."
Abstract with a link to the full article here:

Presentation by Raghbir Kaur, DMD, at Quinnipiac University in 2013, starting around the 20-minute mark, (Note that this is before burosumab was available, so it's not addressed here):

2. Statistics on the incidence of dental issues in XLH patients:
"The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey" J. Endocr Soc 2019
Conclusion with respect to dental issues: "Dental abscesses were reported in 51% (46/90) of children and 82% (189/232) of adults. Excessive cavities were reported in 24% (22/90) of children and 52% (121/232) of adults. A history of root canal surgery was reported for 17% (15/90) of children and 72% (166/232) of adults. Twenty-two of the adults surveyed reported failure of dental implants."
Link to free article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595532/

3. Biochemistry of XLH bones and teeth

"Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia." Ther Adv Chronic Dis, October 2018.
Conclusion: "Our data demonstrating anionic substitution in human dentin from individuals with XLH validate the use of dentin as a proxy for bone and to better understand the molecular adaptations that occur in the biochemical milieu of XLH."

"Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures." Journal of Dental Research, September 2017

4. Case studies

"Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature." Int J Implant Dent 2019
Conclusion: "This case report shows a common presentation and progression of a patient with X-linked hypophosphatemia and will hopefully provide further positive evidence for the clinician to rely on when considering dental implant based treatments for such patients."
You can read the abstract and get a link to the full article (free) here:

"Dental Management of Patients with XLH," Restor Dent Endo, May 2017
Note that this article was written before the new treatment, burosumab (marketed as Crysvita) was approved, so it doesn't address potential benefits from this new treatment.

"X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings."
Scanning, July 2014

"Endodontic management in a patient with vitamin D-resistant Rickets."
Journal of Endodontics, 2012
Note: Ignore the reference to VDRR instead of XLH. It's old terminology.
Conclusion: Early diagnosis, conventional treatment, and continuous radiographic examination are important factors in improving dental alterations in patients with VDRRs.

5. New treatment option overview: burosumab (not specific to dental issues)

"Burosumab versus conventional therapy in children with X-linked hypophosphataemia" Lancet, 2019
This article summarizes a clinical trial for children, comparing "conventional" treatment (Phosphate and calcitriol supplements) to burosumab treatment. They concluded:

"Significantly greater clinical improvements were shown in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia treated with burosumab compared with those continuing conventional therapy."

6. More information on hypophosphatemia generally (not specific to dental issues)
Excellent presentation by Karl Insogna, MD (Yale University) on hypophosphatemia, the biochemistry, and treatment:
General FAQs / Starting Family / PGD
« Last post by TomB82 on January 20, 2019, 10:54:44 PM »
Hi all,

My partner and I are looking into starting a family but due to having XLH, we are considering PGD. This is obviously a sensitive subject but if anyone has experience of Preimplantation genetic diagnosis (PGD) and are happy to share your experiences/answer some questions, please can you message me privately.

Many thanks,
General FAQs / Re: Hyperparathyroidism and parathyroidectomy
« Last post by GinJones on December 18, 2018, 03:21:40 PM »
According to the Clinician's Guide to XLH, which you can download for free with a link here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157040/

the elevated parathyroid hormone is due to too much phosphorus supplementation in relationship to the one-alpha (or, as more common in the U.S., calcitriol):

PTH levels are routinely measured, as secondary hyperparathyroidism is common. Increasing PTH levels may be corrected by increasing the calcitriol dose or by reducing the phosphate dose.

So, when PTH is high, the calcitriol (or one-alpha) should be INCREASED or the phos DECREASED. Not the other way around.

Note that the Clinician's Guide is somewhat outdated insofar as it doesn't discuss burosumab treatment (which does not appear to raise PTH levels), but the information about previous treatment regimens is still good.
General FAQs / Re: Hyperparathyroidism and parathyroidectomy
« Last post by Debbie McFarlane on December 17, 2018, 09:18:25 PM »
Hallo all, I am a 59 year old who has  been on treatment of one alpha & phosphate Sandoz ,for many years - over the last year my blood calcium and parathyroid levels have gone high for no apparent reason, my endocrinologist  keeps reducing the one alpha, but the levels just keep rising.  He is not a specialist in xlh and I want to find out as much information that I can pass on to him and hopefully get to the bottom of what is happening to me. After reading through some articles I am now wondering if it is not the one alpha that is the problem but the phosphate Sandoz. Has anyone else had this happen to them? Thankyou
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