• By Dana Sparks

Science Saturday: The newest building block for understanding rare disease

May 11, 2019

One of the basic building blocks of understanding disease is epidemiologic research. In this science, researchers seek to understand how often a condition occurs in a particular population, and to identify successful ways to treat or prevent disease.

In a study published April 8 in Arthritis & Rheumatology, a team of Mayo Clinic researchers led by rheumatologist Ali Duarte-Garcia, M.D., described the epidemiology of antiphospholipid syndrome. This is the first ever publication characterizing this disease – the newest building block in understanding this rare disease.

Antiphospholipid syndrome is an autoimmune disorder that can occur by itself or with diseases such as systemic lupus. "It is a complex disease which leads to a tendency to form blood clots because the immune system mistakenly attacks certain fats, called phospholipids," says Eric Matteson, M.D., a Mayo Clinic emeritus rheumatologist and senior author on the study. "These fats are present in all body tissues including the membranes around blood cells. In addition to blood clots, patients can suffer pregnancy loss, kidney failure, and strokes as a result of the disease."

The symptoms of antiphospholipid syndrome can mimic many other conditions, says Dr. Duarte. "The most important factor in making the diagnosis is to test for the autoantibodies associated with the disease, and then confirm with a second test 12 weeks later." Read the rest of the article on Advancing the Science.
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