A 77 year old Black male presents to your office with hearing loss, headache, neck pain and bowing of the legs. He recalls that his late uncle had similar symptoms and was diagnosed with a bone disease late in his life but cannot recall the name. What is the most common cause of this patient's disease?

Question

Quizplus · Accepted Answer

"Mutations in the SQSTM1 gene are the most common genetic cause of classic Paget disease of bone, accounting for 10 to 50 percent of familial cases and 5 to 30 percent of sporadic cases. Variations in the TNFRSF11B gene also appear to increase the risk of the classic form of the disorder, particularly in women. TNFRSF11A mutations cause the early-onset form of PDB. (Genetics, Chapter 23- Rheumatologic Diseases, page 4, paragraph 6). There is no single gene polymorphism that creates high risk for SLE, except for the rare TREX1 mutation or deficiencies of early components of complement (C1q, C2, C4). (Genetics, Chapter 23- Rheumatologic Diseases, page 7, paragraph 3). Therefore, answer B is the correct answer.

A 77 Year Old Black Male Presents to Your Office