UW Today

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March 9, 2000

UW article in New England Journal highlights rare but deadly disease

An article in today’s New England Journal of Medicine sheds light on a deadly but largely unknown disease studied by University of Washington scientists.

A diagnosis of Ehlers-Danlos syndrome (EDS) type IV increases the chance that the affected person will meet an early death. The disease alters one of the building blocks of important tissues in the body, so that people are at risk to rupture their arteries, intestines or uterus.

“We think doctors who operate on young people with spontaneous bowel perforations or arterial tears, for example, may not diagnose this disease, because they are not familiar with it,” says Dr. Peter Byers, a UW medical geneticist, professor of pathology and medicine in the School of Medicine, and principal investigator in the study.

EDS Type IV is a genetic disease, although the study found that about half the people developed the disease because of a new mutation in the causative gene, not because they inherited it. It’s not certain how many people have the condition, but it may affect between one in 100,000 and one in 500,000 people, or several thousand people in the United States.

When physicians are familiar with the disease, they can make the diagnosis by taking a family history, a medical history, and performing a physical exam. Affected people often bruise easily, have thin skin with visible veins and may come to medical attention after bowel or arterial ruptures. Their tissues are fragile, so that surgery may be complicated by difficulty in repairing ruptured tissues. Byers and his colleagues identified 220 people nationwide with the disease and almost 200 of their relatives, from studies performed between 1976 and 1998. They identified the causative mutation in more than half the families.

The disease has serious ramifications. For the entire group, the median age of death was 48. The earliest death was at 6; the oldest person was still living at 73. Most deaths followed rupture of large arteries. Women with the disease have increased risk of complications of pregnancy, as well. Twelve of 81 women in the group who became pregnant died of those complications.

It’s important for doctors to diagnose the disease, Byers said. Knowing about the disease affects how the person might be counseled about pregnancy and its risks. Knowing that a person has the condition can affect how doctors treat patients during surgery and during an emergency such as a bowel rupture. It’s more challenging to perform surgeries on people whose tissues are delicate and tear easily. In addition, because it is sometimes an inherited disorder, the diagnosis in one person has ramifications for relatives.

“The diagnosis should be considered and biochemical evaluation performed in young people with unexplained bowel or arterial rupture, especially those with a family history of similar events,” the article says.

The research was supported in part by funds from the National Institutes of Health. Other authors of the New England Journal report are Melanie Pepin, a genetic counselor at UW; Dr. Ulrike Schwarze, a geneticist at UW; and Dr. Andrea Superti-Furga of the University of Zurich.