Rare Bone Diseases-Albright Hereditary

Video Transcription

Video Summary

Albright's Hereditary Osteodystrophy is characterized by short bones, obesity, and ectopic ossifications. Diagnosis involves physical exam findings such as brachydactyly. Treatment includes occupational therapy for enhanced function and physical therapy for movement preservation. Lab abnormalities are similar to hypoparathyroidism, but PTH levels are high due to resistance. Genetic testing is recommended for patients and parents, with regular monitoring of PTH, calcium, phosphorus, and vitamin D levels. Treatment involves calcitriol and oral calcium supplements to normalize serum calcium levels. The most likely etiology for a man with difficulty opening his mouth and shorter ring fingers is an inactivating GNAS mutation inherited from the father. Treatment aims to target normal serum calcium levels. Common comorbidities include nephrocalcinosis, thyroid dysfunction, growth hormone resistance, hypogonadism, diabetes, sleep apnea, and dental abnormalities. Treatment options during video presentation were braces for subcutaneous ossifications, calcium and calcitriol targeting normal serum calcium, higher caloric intake, and PTH analogs targeting low normal serum calcium. The best answer is B, targeting normal serum calcium levels with calcium and activated vitamin D supplements.

Keywords

Albright's Hereditary Osteodystrophy

brachydactyly

genetic testing

calcitriol

normal serum calcium levels


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