Adult Hypophosphatasia

Adult Hypophosphatasia
Kathryn Dahir, MD Professor of Medicine, Vanderbilt University Medical Center
The Rare Bone Disease TeleECHO Clinic Series is intended for medical professionals interested in treating patients with rare bone diseases. This recorded didactic presentation was part of a larger live session. To learn more about this program and register for upcoming sessions, go to oif.org/echo/rbd/.

[@charityhanna4728]

Recently diagnosed with HPP :
ALP- 22
B6- 160
Japanese Grandmother (born in Osaka)
CONFIRMED through DNA test.
Always searching for easy to understand information.
Thank You

[@joeannlubiano]

My alp is 37,consider as low as well..i think adding more nutritious food to our diet more on Calcium, iron, zinc, magnesium and B12 . Nuts, eggs, dairy foods and green leafy is one of my go-to foods that I have to focus and also vitamin D..which maybe has at least 15mins sunlight in the morning 🌞 .Have you added anything on your diet lately?

[@Lovescoffeeandtea]

How to test dna for this?

[@anson.meadows]

Does the patient have to have homozygous finding with genetic labs?
I have likely pathogenic heterozygous, and I am incredibly sick (bed bound in 30s) with low ALP, stiffness, electrolyte problems, blood volume/perfusion issues, neuropathy and much more.

[@Kvnp19]

I have had a persistent low alkaline phos (between 18-32) for a decade since I have MS but was being worked up for RA due to joint and muscle pain. It has been completely ignored and I kept thinking I had a zinc deficiency. Luckily I am an NP and just ordered Vit B6 & ALPL genetic testing on myself to see if this is a possibility. It’s a little unnerving to think I could have yet another diagnosis with not much to be done about it though!

[@adalovelace7678]

How can someone find a physician to diagnose HPP? I'm in central TX looking for screening for a possible mild case. I'm in my 40s with chronic pain, fatigue, and neuropathy. I've had ALP between 25-45 for the past 13-14 yrs. My endocrinologist and GP have never heard of HPP. I don't have any documented fractures, but have bone pain in my feet and hips when I exercise. Any help finding an adult doctor would be awesome!

[@OIFoundation]

Hi Amber, we suggest you contact Soft Bones (softbones.org/) at [e-mail]!

[@michelledefiore565]

My endocrinologist thinks I have this and I am only 29 years old

[@kelly7238]

What happened?

[@whatwhatwhat2]

I have hpp