Gaucher: A Common, but Little Known, Genetic Disease
In June 1980, Suzanne Krupskas ­ age 23 and newly married ­ collapsed on the tennis court from intense bone pain. An athlete who also loved horseback riding, skiing and skating, she says it was her first clue that something was wrong.

Krupskas was first misdiagnosed with bone cancer, then leukemia, bursitis and arthritis. Finally, the underlying cause was identified as Gaucher disease ­ a not uncommon, genetic condition that can cause symptoms as wide-ranging as chronic anemia, spleen and liver enlargement, fatigue, bone and joint pain, frequent fractures, easy bruising, and nosebleeds.

By 1983, Krupskas' health began to deteriorate. In January, she experienced devastating pain in both hips while scuba diving. By June, she couldn't dress herself. Later that month, she had two of her five hip replacements.

Over a period of years, Krupskas says her liver and spleen became greatly enlarged. Although removal of her spleen was proposed, it was not done because her bone condition would have worsened.

She has had 10 bone crises in the last 17 years ­ spiking a fever of 105 degrees each time. A crisis occurs when there is a sudden lack of oxygen to bones because of restricted blood flow. "It feels like a drill in your bones," she states. "All you can do is lie in the hospital with a morphine drip for three days."

­ Debra Day-Salvatore, MD, PhD

What is this mysterious disease and whom does it affect?

There are three types of Gaucher disease, distinguished by the presence or absence of neurological complications, and whether the complications progressively worsen. The incidence of Type 1 ­ which has no neurological complications and which Suzanne has ­ is highest in the Ashkenazi Jewish population, where it affects about one in 450 individuals, and where one in 10 is a carrier (meaning they have one defective gene). In the general population, the incidence of Type 1 is one in 40,000, according to Debra Day-Salvatore, MD, PhD, a genetics specialist at UMDNJ-Robert Wood Johnson Medical School and St. Peter's Medical Center. This makes Gaucher the second most common genetic disease in the world ­ after cystic fibrosis ­ and more common in Ashkenazi Jews than Tay-Sachs. "

These individuals appear healthy and pursue normal activities ­ go to school, hold down jobs," Day-Salvatore says, "until one day the disease catches up with them." Gaucher is often not diagnosed until adulthood.

The gene defect in Gaucher disease results in the lack of an enzyme, glucocerebrosidase ­ needed to break down a fatty substance in the blood. The fatty substance accumulates, and is stored in macrophages, which consequently become enlarged. These "Gaucher cells" often build up in the liver and spleen, and can take over the normal function of these organs. When the bone marrow is infiltrated, bones can become brittle and fracture spontaneously.

A simple blood test can confirm the diagnosis. While Gaucher is not yet curable, a highly effective treatment is available.

In 1989, Krupskas learned of a clinical trial of a new therapy. She was chosen to participate because of her liver and spleen enlargement, her bone abnormalities and her very low platelet count of 18,000 (normal is between 150,000 and 250,000).

"I flew down to the NIH every two weeks for two years to get a low dose infusion of Ceredase®," she says. "In 1991 the therapy was approved."

Ceredase®, a replacement of the missing enzyme, is derived from human placentas. It lessens symptoms immediately and reverses damage to organs and bones over a period of months. It's administered intravenously every two weeks.

"This therapy works very well, but it's expensive to produce and has been in short supply. It also contains some residual hormones from the placenta," says Nita Patel, RN, who administers the infusions to patients at the Gaucher Disease Center at St. Peter's Medical Center in New Brunswick, the only one in New Jersey and the national center for treatment of Gaucher in pregnancy.

Just recently the original therapy was succeeded by a genetically engineered form of the enzyme called Cerezyme®. "Once production gears up," says Patel, "there will be enough Cerezyme® to go around."

Krupskas ­ who has written an exercise book for Gaucher patients ­ says that the disease can be mentally and physically devastating. Although she has had to give up sports, the physical therapist does weight training with low weights, isometrics and toning. She has also become a vegetarian and avoids foods that cause inflammation of her joints. Krupskas has been feeling very well with this regimen.

Day-Salvatore's advice to those with symptoms that may signal Gaucher include "immediate evaluation at a Gaucher center and initiating infusion therapy shortly after diagnosis in order to prevent bone and hematological problems.

"Genetic evaluation and counseling will also help answer the many questions that you'll have," she states.

Krupskas recommends joining a support group: "No matter how wonderful your family and friends are ­ and mine have been terrific ­ you'll gain strength from others who share your experiences."

For further information, call the National Gaucher Foundation at 800-925-8885 or St. Peter's Medical Center at 732-745-6659.