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Osteoporosis with Osteomalacia not due to Vit D or Phosphorus
Is anyone dealing with severe Osteoporisis with Osteomalacia?
It has taken 4 years and a bone biopsy, to finally receive confirmation of osteomalacia. All common causes ( deficiency of CA, Vit D, phosphorus) have been eliminated. ALP normal ( although low) PTH normal; Kidney normal. Nutrient Absorption appears normal though there may be some Fat metabolism impairment. Full Invitae skeletal panel 'negative' except for defect ( COL1a1 COL1a2) from Sticklers syndrome of unknown significance.
Long history of fractures with continued fracture ( even on Evenity).
I believe Vit D receptor mutation has been checked.??
No prior medication use that effect mineralization.
I have read that heavy metals sometimes interfere... but that is a long shot. ANy help or thoughts are appreicated. Thank you.
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You mention possible malabsorption. Have you had a workup with a gastroenterologist? I learned that I have enzyme pancreatic insufficiency in the severe range. I also have severe osteoporosis (-3.3 in radius forearm). DEXA cannot read my damaged spine or bi-lateral replaced hips. It is a constant battle to try to treat the osteoporosis successfully due to the malabsorption, despite taking Creon enzymes with my food. My bloodwork is mostly normal other than low total protein, and I pack in the protein with every meal. So if you have malabsorption, please know that it is truly an uphill battle and you need a good gastroenterologist. I am currently on Tymlos. I am also underweight (thanks to the EPI).