Severe primary hyperparathyroidism masked by asymptomatic celiac disease

Area of Science:

• Endocrinology
• Gastroenterology
• Internal Medicine

Background:

• Normocalcemic primary hyperparathyroidism presents a diagnostic challenge, often lacking typical hypercalcemia.
• Celiac disease (CD) is an autoimmune disorder that can lead to malabsorption and various extradigestive manifestations.

Observation:

• A 24-year-old woman with severe weakness and fragility fractures presented with normocalcemia but elevated parathyroid hormone and alkaline phosphatase.
• She exhibited resistance to standard vitamin D and calcium supplementation, suggesting malabsorption.
• Positive celiac disease antibodies and duodenal biopsy confirmed asymptomatic CD.

Findings:

• Surgical removal of a parathyroid adenoma and a gluten-free diet resulted in marked clinical, biochemical, and radiological recovery.
• This case highlights the potential link between undiagnosed celiac disease and normocalcemic hyperparathyroidism.

Implications:

• Clinicians should consider screening for asymptomatic celiac disease in patients with unexplained normocalcemic primary hyperparathyroidism.
• Integrating gastroenterological and endocrine evaluations can improve patient outcomes in complex cases.
• Early diagnosis of celiac disease is crucial for managing associated metabolic bone diseases.