Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

April 8, 2019

The newest building block for understanding rare disease

By Elizabeth Zimmermann

hands playing with Lego blocks

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."

However, in the case of a rare disease such as antiphospholipid syndrome, physicians may not even recognize the need for a particular test. The Mayo research team hoped that defining this particular disease would assist physicians in identifying where a set of symptoms pointed.

Understanding rare disease

International Rare Disease Day was February 28, 2019. This provided a chance for Laurie Edwards, a professor at Northeastern University in Boston, to acknowledge the difficulties people with rare conditions face – including her – and to bring attention to nationwide efforts to address rare diseases. (Read her commentary post on, Boston's National Public Radio news station).

As part of its continued promise to provide the best possible care for patients, Mayo Clinic researches, diagnoses, and – when options exist – treats rare conditions such as Edwards'.

"By knowing which populations and age groups more frequently get the disease," says Dr. Duarte, "Clinicians can more accurately select diagnostic tests and increase diagnosis likelihood in those populations where the disease occurs more often."

Research findings

Using the Rochester Epidemiology Project to examine an entire community's health information, the researchers found that antiphospholipid syndrome occurs each year in about two people out of every 100,000.

In that same 100,000 people, the team estimates that about 50 people have the condition at any given time (including chronic and new diagnoses).

They were pleased to discover that while antiphospholipid syndrome may cause a variety of health concerns, it did not seem to hasten death in the patient group as a whole.

Dr. Duarte says, "Knowing the frequency of a disease, and who it affects, informs policy and practice. This information is essential for policy makers, as well as government and funding agencies, to decide how to allocate clinical and research resources for the treatment and study of a disease."

He also adds, "We did not know it was a rare disease before this study, because there was no existing data about the frequency of antiphospholipid syndrome."

Drs. Duarte and Matteson and their colleagues decided to research antiphospholipid syndrome primarily because it had no epidemiologic data. They had noticed it seemed to appear often with lupus and other rheumatic diseases, but had no information about how often or what other factors might contribute to occurrence.

Unlike some rare conditions, antiphospholipid syndrome has treatment options, albeit no cure. "Antiphospholipid syndrome can usually be managed with blood thinners," says Dr. Matteson. "But in some patients with more severe disease, drugs that suppress or alter the immune system may be needed."

Dr. Matteson says that although researchers do not know what causes this disease, Mayo Clinic's most recent contribution to understanding antiphospholipid syndrome helps build the evidence base needed for better understanding of the causes, disease burden and management of this syndrome.

Dr. Duarte conducted this research as a Kern Health Care Delivery Scholar in the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. His education and research are also supported by the  Center for Clinical and Translational Science.


About the Rochester Epidemiology Project

The Rochester Epidemiology Project (REP) is a collaboration of clinics, hospitals, and other medical facilities in Minnesota and Wisconsin and involves community members who have agreed to share their medical records for research. Using medical record information, medical scientists can discover what causes the diseases, how patients respond to medical and surgical therapies, and what will happen to patients in the future. Research studies conducted in the local community may improve the health of people both locally and globally.

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Tags: Ali Duarte Garcia, Center for the Science of Health Care Delivery, epidemiology, Eric Matteson, Findings, immune system, News, rare disease, rheumatology, Rochester Epidemiology Project

I would love to know if Mayo Clinic is planning any research about Hidradenitis Suppurativa. HS is a skin disease as terrible as cancer, yet it is not treated or researched with the same efforts. There is a big population of patients waiting for more research that could at least, lead to a better quality of life.

¨HS is considered to be the dermatological disease with the greatest impact on quality of life , comparable to chronic obstructive pulmonary disease , diabetes , cardiovascular disease and different types of cancer.¨ -(

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