Question

An 18-year-old man comes to the physician for a health maintenance examination. He has a family history of Tangier disease, and a number of adults in his family have either hepatosplenomegaly, recurrent polyneuropathy, or both. He has no specific complaints at this time. Which of the following would be the strongest finding on physical examination to suggest the presence of this disease? a. Angiokeratomas b. Grey-brown pigmentation of the forehead, hands, and pretibial region c. Irregular black deposits of clumped pigment in the peripheral retina d. Orange-yellow tonsillar hyperplasia e. Pingueculae

Answer 1

Explanation: Have a nice day let me know if this helped.

The strongest finding on physical examination to suggest the presence of Tangier disease in an 18-year-old man with a family history of the disease would be e. Pingueculae.

Tangier disease is a rare genetic disorder characterized by a deficiency of high-density lipoprotein (HDL) cholesterol. It is named after Tangier Island in the Chesapeake Bay, where the disease was first identified.

Pingueculae are yellowish, raised areas of tissue that form on the conjunctiva, the clear tissue that lines the white part of the eye. They are usually located near the cornea and appear as small bumps or nodules. The presence of pingueculae is a common finding in Tangier disease.

The other options mentioned in the question are not specific to Tangier disease. Angiokeratomas (a) are small, dark red spots that appear on the skin. Grey-brown pigmentation of the forehead, hands, and pretibial region (b) is associated with a condition called Addison's disease. Irregular black deposits of clumped pigment in the peripheral retina (c) are seen in a condition called retinitis pigmentosa. Orange-yellow tonsillar hyperplasia (d) is associated with another condition called Niemann-Pick disease.

Therefore, in this case, the presence of pingueculae on physical examination would be the strongest finding to suggest the presence of Tangier disease.