In adults who have the bone-softening disease osteomalacia—known as rickets in children—the cause may be previously undetected celiac disease, according to an unusual case report being presented Monday, June 4, at The Endocrine Society’s 89th Annual Meeting in Toronto.

Osteomalacia can occur because of a lack of vitamin D, which is important for bone health. The disease not only increases the risk of fractures but—unlike the bone-thinning disease osteoporosis—also causes debilitating bone pain and muscle weakness.

Drs. Ramaswami Nalini and Stephanie Shaw of Baylor College of Medicine in Houston saw a 55-year-old severely underweight patient visiting from Bulgaria, who complained of bone pain and muscle weakness and who required the use of a wheelchair. The woman reported that she previously had bouts of diarrhea but had not had them in three years. Blood tests showed extremely low levels of calcium and phosphorus (another mineral important for bone health), and the vitamin D level was undetectable. A bone density scan showed severe osteoporosis. Evaluation with blood tests and a biopsy of the patient’s small bowel revealed that she had celiac disease.

Also called celiac sprue, celiac disease results from intolerance to gluten, a protein found in wheat, rye and barley. It impairs absorption of vital nutrients, such as vitamin D. Celiac disease is often difficult to diagnose because symptoms vary and gastrointestinal symptoms may not even be present. Intestinal symptoms include bloating, nausea, diarrhea and abdominal pain. About 2 million people in the United States have celiac disease, and it is more common in people of European descent.

Based on the patient’s medical history and blood tests, Nalini and Shaw diagnosed osteomalacia caused by vitamin D deficiency from celiac disease. She was placed on a gluten-free diet and received high doses of vitamin D over several weeks. Within three weeks, the patient was able to walk without assistance, gained weight, and her calcium, phosphorous, and vitamin D levels all returned to normal.

“It was unusual that this woman was older and so ill,” said Nalini, an assistant professor of medicine and endocrinology at Baylor. “We don’t often see that severe a presentation of osteomalacia from celiac disease in the United States. This case illustrates the importance of a timely diagnosis of celiac disease.”

The possibility of celiac disease, she added, should be considered in patients with unexplained metabolic bone disease, even if gastrointestinal symptoms are absent or the patient is an older adult.

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