Always Tired and Bruised? You May Have Gaucher Disease

Brian Cohen encourages students at the University of Pennsylvania Hillel to be screened for genetic diseases.

Brian Cohen encourages students at the University of Pennsylvania Hillel to be screened for genetic diseases.

— by Staci Kallish, DO

Gaucher disease is extremely common in the Ashkenazi Jewish population, where it affects approximately 1 in 850 people. Symptoms of this disease include anemia and low platelet counts, which can lead to fatigue, easy bruising, and bleeding.

Gaucher disease is a genetic condition caused by the inability to make an enzyme, glucocerebrosidase, which breaks down fatty substances in the body. This leads to build up of these substances in many tissues of the body, including the bones, organs, and bone marrow. The spleen and liver can become enlarged, and the bones can be affected, with bone pain and low bone density.

Gaucher disease can present in childhood with the above features and with poor growth. However, some people with Gaucher disease do not show symptoms until adulthood. This variability and the rare nature of the disease can make the diagnosis difficult. Many people with Gaucher disease experience a delay between symptom onset and eventual diagnosis. This delay may be months or even years long.

The features of Gaucher disease show overlap with some more common diseases, leading to further difficulty in making this diagnosis. People with Gaucher disease may initially be suspected to have leukemia, non-Hodgkin’s lymphoma, viral infections, or other conditions. While these conditions may be more common than Gaucher disease overall, Gaucher disease is actually more common in the Ashkenazi Jewish population than blood cancers, indicating Ashkenazi Jews with these symptoms should be evaluated for Gaucher disease early in their diagnostic work up. A delay in diagnosis of Gaucher disease can lead to complications, including irreversible bone damage, bleeding complications, and worsening of low bone density. Unnecessary procedures may also be performed, including treatment with steroid medications, biopsy of the liver, or removal of the spleen.

The diagnosis of Gaucher disease can be made with a blood test measuring the deficient enzyme, glucocerebrosidase. Genetic testing (also a blood test) may be useful for confirmation of the diagnosis or in high-risk populations, such as Ashkenazi Jews, as they are likely to have mutations common in their population. The diagnosis may be made by biopsy of the bone marrow, but this is an invasive procedure and may not be necessary if Gaucher disease is diagnosed in another manner. Bone marrow biopsy may also provide false negative results and miss a diagnosis of Gaucher disease.

It is particularly important to consider Gaucher disease in people with symptoms suspicious for the disorder and to make the diagnosis in a timely manner as specific treatment is available for the condition. Gaucher disease may be treated with enzyme replacement therapy, which is an IV therapy that replaces the deficient enzyme, or with an oral therapy that reduces storage of the accumulating fatty substances. Treatment for Gaucher disease can normalize blood counts (hemoglobin and platelet counts), normalize spleen and liver size, and prevent the bony complications of the disease.

To reduce the likelihood of misdiagnosis of Gaucher disease, people should be aware of the symptoms. People who suspect they may have Gaucher disease or who have symptoms of Gaucher disease should be evaluated by a clinical geneticist or other specialist with experience in diagnosing and treating the condition. Family members of those with Gaucher disease should discuss this family history with their physicians. An evaluation for Gaucher disease may be recommended for them as they may be at risk for being affected and may have only mild features of the condition.

Increased awareness about Gaucher disease can help some people avoid a delay in diagnosis and treatment. For more information about Gaucher disease, visit the National Gaucher Foundation.

kall3211[1]A clinical and biochemical geneticist, Dr. Kallish is an assistant professor of clinical medicine in the division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania who sees patients with Gaucher disease and other rare diseases. Dr. Kallish participates in the International Gaucher Disease Registry, which is funded by Genzyme.

Come, Share My Dream

— by Rebecca Salame

A year ago today, I was in hospice care at home. For many years I lived with a rare lymphoma and a few other cancers, I’ve lived at end stage for far longer than anyone could ever have anticipated. I’ve had extra, and I know that, I’ve been truly blessed. By August 2011, my time was short,because of the nature of the main lymphoma I have to live with. I had so much tumor activity that I could no longer walk, use my hands, or see. So, hospice it was. My only chance at more time would be a stem cell transplant, and for Jewish people, finding a donor is not easy, since so few of us register. We must run drives and search for our matches, and most often, we do not find them.

More after the jump.
I was so grateful to be where I was, able to see my loved ones OK, able to know that life is so good, I was grateful for what I had, and I understood the odds against finding my match. I’m poor and live alone with my daughter, I couldn’t fund or run any drives. One of my cousins in Brooklyn had a drive for me, but no match came of it. Then,  in June 2012, a donor was found, a perfect match! I was given multiple chemo-therapies for months, trying to get me into shape for a transplant. Finally, I was ready, and my transplant was scheduled for December 7. The day before my scheduled transplant, as I was packing to go to the hospital, we lost my donor, they had a medical issue that precluded their ever donating. Well, yes, it was a disappointment, but then I had a dream, over and over, people were telling me that I had found 10,000 donors, that I had saved lives and I awakened from that dream and began to talk, and talk, and talk to anyone who would listen, to ask them to register, to teach them how important it is. My dream is to change the culture of donation, to get folks to register when they turn 18, for registering to be a rite of passage, akin to getting a driver’s license or registering to vote.

I got asked to be on Channel 11 in New York City’s Help Me Howard segment, and I went. I spoke about the importance of registering, for everyone.

I’ve had a few dozen drives around the country so far. I’m trying to raise funds for donors and drives. It isn’t easy, since I’m very ill, but I do my best, and I have a wonderful team to help me, the Icla Da Silva Foundation, an affiliate of Be The Match.

I may not have a match, but I want to change the future, I want it to be rare for someone to need to look for their match — after all, the fact is that we each have hundreds or thousands of matches alive at all times, they just don’t know that they are needed. If we all register at 18, everyone would have a match, even folks like me, Jewish folks, with rare genetics shared by less than 1% of the human race.

Today, I am still in partial remission, taking a drug that wasn’t available to me a year ago, having a chance at even more time, and out of hospice care! I am walking for months now, wearing clothes on most days, able to see with my eyes and not just my heart. And that means that I have a little bit of extra time, to talk to people, to share my story with them, and my dream. My friends lean on me, you know how it is, someone who is very ill seems a bit nobler,somehow, a bit more able to give guidance. I don’t know if that is always how it seems, but in my case, to my friends, it does, and I have always been someone who cheered others on. I’m good at loving people to their best selves. That was always my gift. It was why I thought I was here before this new dream came to me, this new goal, this mitzvah that I hope to fulfill. “Go ahead,” I tell my loved ones, and anyone I meet anywhere, “complain about anything to me! I love you. I see your challenges, frustrations, pain and hurts. But, for me, my hurts, my disappointments, they pale in the presence of this gift of existence, for me and for you.”