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A bad heart and housemaid's knee

When Marian P. was 19, her heels became so swollen and stiff that she could not walk. Her local doctor had no idea what was wrong with her. For years, Marian’s heels periodically became swollen, stiff, and sore, making walking painful and sometimes impossible. Nodules began to form on the tendons of her fingers, and a growth—diagnosed as housemaid’s knee—appeared on her left knee. She could not walk 2 weeks after her wedding. A long line of puzzled physicians recommended nothing more helpful than soaking in Epsom salts.

A surgeon finally removed one of the lumps—the large nodule on her elbow—remarking that it looked like chicken fat. A biopsy revealed that the growth wasn't cancer, so she forgot about it. Eleven years later another surgeon removed 2 more lumps and said he couldn’t touch the others, as they were intertwined with her tendons. He referred her to a specialist, who at last gave the lumps a name—xanthomas (caused by type-II hyperlipoproteinemia). Her cholesterol levels were sky high, and diet and cholesterol-lowering drugs seemed to have little effect.

At 40 she had a heart attack that went undiagnosed for two and a half weeks. When she was admitted to the hospital, she was unable to have bypass surgery because of fatty deposits clogging up her system. She was told she had a hereditary condition and was unlikely to live to old age. Despite successful angioplasty for angina, chest pain finally forced her to retire at the age of 55, and her husband, worried that her life might be cut short, took early retirement, too. They moved to Virginia’s Chesapeake Bay area.

Her new doctor, perplexed by Marian’s persistently high cholesterol, sent her to a lipid specialist at the Medical College of Virginia. After 50 years, Marian finally got a diagnosis: She had a genetic disorder called sitosterolemia, in which the body absorbs abnormal amounts of plant cholesterol (sitosterol) and, unable to excrete it, deposits it in xanthomas and in the arteries, which leads to heart disease. The disorder is so rare that only 40 people in the world are currently known to have it.

In 2001, Marian participated in a Clinical Center protocol to elucidate the genetic cause of her disease: a deficiency of ABCG5 and ABCG8, genes affecting the intestinal and liver bile ducts. She also took part in a study investigating a drug to block absorption of both plant and animal cholesterol in the intestinal tract. Ezetimibe, the first medication the FDA approved for sitosterolemia, also got the green light for use in millions of patients with ordinary cholesterol disorders.

With proper medication, Marian’s cholesterol has plummeted. Today, at 70, she is healthier than she was when she retired. “I used to pray that I could watch my children grow up,” she says. “Now I pray I can watch my grandchildren grow up.”

Copyright (c) Pat McNees. Published here by permission of Marian P. For publication rights to these and other patient stories from the NIH, contact the author, Pat McNees.

Marian at a recent birthday party