7002 Building Poor Bone, A Rare Presentation Of Skeletal Fluorosis

Abstract

Abstract Disclosure: C. Pham: None. J.S. Lopresti: None. Skeletal fluorosis is a rare disease associated with osteosclerosis and fractures. Case: 26 year old male presented with a history of multiple traumatic fractures but no childhood or family history of fractures. Initial labs revealed a corrected calcium of 8.1 mg/dL (8.5-10.3), ALP 1,504 U/L (40-129), PTH 131 pg/ml (15-65), 25-OH D 14 ng/ml (30-100), PO4 3.7 mg/dl (2.5-4.5) and normal creatinine. X-Rays demonstrated osteosclerosis and cortical expansion of bone and nuclear bone scan demonstrated diffuse increased uptake. Further history revealed huffing of computer inhalants (10 cans daily) for years. Due to these findings, urine fluoride 16.88 mg/L (0.20-3.20 mg/L) and serum fluoride 0.40 mg/L (<0.05 mg/L) were obtained and vitamin D was started. 4 months later, his vitamin D level improved to 21 while calcium levels normalized despite ongoing inhalant use. ALP (878) and PTH (92) continued to be elevated albeit at improved levels. Conclusion: Exposure to fluoride leads to a rare condition called skeletal fluorosis causing accelerated osteogenesis and bone turnover leading to weak bone. Symptoms include bony pain, fractures, and osteosclerosis on radiographs. Differential diagnosis includes other conditions associated with osteosclerosis such as Paget’s disease and myelofibrosis. However, diffuse osteosclerosis and vertebral osteophytosis are noted only in skeletal fluorosis compared to other potential causes, though our patient did not have a CT spine done to assess for osteophytes. Biochemical studies can include hypocalcemia and hyperparathyroidism. It is thought that low calcium intake contributes to the hyperparathyroidism. Elevated serum and urine fluoride levels are also diagnostic and can persist for months after cessation of fluoride intake. Sodium fluoride has been posited as a treatment for osteoporosis due to its tremendous ability to build bone; however, the quality of bone made is poor leading to unacceptable fracture rates. Skeletal fluorosis should be suspected in any patient with history of diffuse osteosclerosis and hyperparathyroidism; and vitamin D supplementation should be initiated. In our case, hypocalcemia and PTH levels were improved despite active inhalant use after vitamin D supplementation. This suggests that Vitamin D deficiency and fluoride may be two independent driving factors in hyperparathyroidism in patients with fluorosis. Increased calcium absorption with vitamin D provides therapeutic benefit in both cases. Presentation: 6/1/2024