Benign familial hypocalciuric hypercalcemia.

Area of Science:

• Endocrinology
• Genetics
• Calcium Metabolism

Background:

• Benign familial hypocalciuric hypercalcemia (BFHH) is a genetic disorder causing lifelong hypercalcemia.
• It is often mistaken for primary hyperparathyroidism, leading to potential misdiagnosis and inappropriate treatment.
• The condition stems from mutations in the calcium-sensing receptor gene (CASR).

Purpose of the Study:

• To review the pathophysiology, clinical features, diagnosis, and management of BFHH.
• To differentiate BFHH from primary hyperparathyroidism.
• To emphasize the importance of avoiding surgical intervention in BFHH patients.

Main Methods:

• Systematic literature review of available studies on BFHH.
• Analysis of genetic causes, clinical presentation, and diagnostic criteria.
• Evaluation of management strategies and patient outcomes.

Main Results:

• BFHH is an autosomal dominant condition with lifelong hypercalcemia, relative hypocalciuria, and elevated parathyroid hormone.
• CASR gene loss-of-function mutations are the underlying cause.
• Complications like osteopenia and nephrolithiasis are not increased in BFHH, and parathyroidectomy is not recommended.

Conclusions:

• BFHH is an important, though uncommon, cause of hypercalcemia, particularly in younger individuals.
• Diagnosis is critical to prevent unnecessary parathyroidectomy, as hypercalcemia persists post-surgery.
• Genetic screening and family member evaluation are essential for proper management and patient counseling.