A case of renal hypophosphatemic osteomalacia (RHO) that was unmasked by hyperthyroidism is presented. The patient presented at age 64 with pathologic leg fractures. There was no family history of osteomalacia or rickets. Initial evaluation revealed hyperthyroidism, which was treated with radioactive iodine. Despite control of thyroid function, the patient had recurrent pathologic fractures. Further evaluation revealed histologically proven osteomalacia and the biochemical findings of RHO: elevated serum alkaline phosphatase, decreased serum phosphate and tubular resorption of phosphate, and normal serum calcium, parathyroid hormone, and vitamin D levels. Other causes of osteomalacia were excluded. Treatment with phosphate and calcitriol reversed the osteomalacia. This case demonstrates that hyperthyroidism, and possibly other illnesses that affect vitamin D or bone metabolism, may unmask metabolic bone disease and that physicians should be alert for the subtle clinical and biochemical indicators of unrecognized metabolic bone disease in adults.
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Article Synopsis
- - Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare disorder linked to mutations in the ENPP1 gene, leading to a variety of health issues, including GACI, OPLL, and pseudoxanthoma elasticum.
- - ARHR2 manifests with elevated serum FGF23 levels, causing phosphate loss in the kidneys, resulting in symptoms similar to other hypophosphatemic rickets, including rickets in children and osteomalacia in adults.
- - Genetic testing is crucial for diagnosing ARHR2 to ensure patients receive appropriate treatment options and access to clinical trials for new therapies.
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