Signs and Symptoms of Tangier Disease

Tangier Disease is an inherited disorder characterized by extremely reduced levels of high-density lipoprotein (HDL), often referred to as the "good cholesterol." Sufferers of the disease, named for the island of Tangier off the coast of Virginia where it was first identified, all have mutations in the ABCA1 gene. The ABCA1 gene provides the instructions to the protein that helps rid cells of excess cholesterol. Since the instructions are faulty, those with Tangier disease cannot properly eliminate cholesterol from cells.

Orange Tonsils, Enlarged Spleen and Liver

• Only about 100 cases of Tangier disease have been recorded worldwide. The first case was identified in 1960 in a five-year-old boy named Teddy Laird on Tangier Island. The boy showed the symptoms by which the disease is best known. He had characteristic enlarged orange tonsils and adenoids, very low levels of high-density lipoprotein (HDL) and an enlarged liver, spleen and lymph nodes. The presence of enlarged yellow-orange tonsils is the most obvious visual sign of Tangier disease in children. Teddy's sister Elaine was the second recorded case of the disease.

Atherosclerosis

• As they age, those with Tangier disease often develop atherosclerosis, the buildup of fatty deposits and scar-like tissue in the linings of the arteries. Premature coronary artery disease is six times higher than average for those between 35 to 65 years of age with Tangier disease. Those with the disease may also exhibit a slightly elevated amount of fat in the blood, known as mild hypertriglyceridemia.

Ocular Signs and Symptoms

• Subjects diagnosed with Tangier disease range in age from two to 67 years. To complicate diagnosis, symptoms may vary more with progressing age. In the case of a 66-year-old male diagnosed with the disease, the signs and symptoms resulting from the disease included ocular complications such as corneal clouding, decreased corneal sensation and slowly progressive visual impairment. Incomplete eyelid closure preceded corneal clouding.

Nerve Function, Muscle Wasting and Other Signs and Symptoms

• Other signs of Tangier disease include problems affecting nerve function that cause numbness, tingling, pain, swelling and muscle weakness in various parts of the body. Some sufferers experience widespread pain and temperature sensation loss over several parts of the body. Some exhibit progressive muscle wasting, including bilateral wasting of the hand muscles. Other signs and symptoms that may occur include paralysis on both sides of the face, known as facial diplegia; episodes of appendicular stabbing pain over several years; and Type 2 diabetes.