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Tackling Gaucher disease, a rare genetic disorder

 

Pramod Mistry, MD
Pramod Mistry, MD

 

As a future physician, Nathaniel Kleytman, 24, is determined that no child experience the unbearable pain, bruising and excessive bleeding he endured for nine years until he was properly diagnosed with Gaucher disease, a rare genetic disorder.

Today Kleytman is assisting Pramod Mistry, MD, director of Yale Medicine’s National Gaucher Disease Treatment Center, in a research project studying a new treatment for Gaucher disease that could minimize the need for infusions.

“A major danger of Gaucher disease is lack of awareness. People wait an average of five years before receiving an accurate diagnosis. Additionally, not many providers have experience treating the disease,” said Dr. Mistry, who has been treating families for 30 years.

In an effort to broaden awareness and access to treatment, Dr. Mistry recently expanded his practice from New Haven and Stamford in Connecticut to New Rochelle, NY. The New York location makes it easier for patients to access care, including people who travel from all parts of the United States and the world to see Dr. Mistry.

The National Gaucher Disease Treatment Center is integrated with a Northeast Medical Group Obstetrics and Gynecology practice, as many women with Gaucher disease are first diagnosed during pregnancy because of low platelet counts. Ensuring safe pregnancy for mother and child requires close collaboration between the obstetrician and Gaucher doctors. Additionally, Dr. Mistry offers genetic testing, which can identify risk early and develop a plan for the baby’s testing and treatment.

What is Gaucher disease?

Worldwide, Gaucher disease affects 1 in 40,000 people, but its frequency is as high as 1 in 450 births among people of Ashkenazi (Eastern European) Jewish decent. There are approximately 6,000 people with Gaucher disease in the United States.

Individuals with Gaucher disease have macrophages – the cells responsible for eliminating damaged cells – that lack the enzyme to break down a molecule called glucocerebroside. As a result, the molecule overwhelms the macrophages, turning them into what is called Gaucher cells, which then accumulate in bone marrow, the liver and the spleen. Once there, they cause inflammation and scar tissue responsible for many symptoms of Gaucher disease, such as bone pain, organ enlargement, osteoporosis, dead bone tissue, anemia, fatigue, excessive bleeding and bruising. Some patients also are at risk of cancers and Parkinson’s disease.

Gaucher disease is not yet curable, but most types are treatable with regular infusions of a synthetic enzyme. For example, Kleytman experiences no Gaucher symptoms thanks to regular infusions of a genetically engineered enzyme.

While the disease is present at birth, symptoms can appear at any age. Early diagnosis and treatment are vital for the best outcomes. Diagnosis involves a genetic test and a blood test that measures enzyme activity.

Eliminating stigmas

In addition to providing medical care, Dr. Mistry wants to lessen the stigma associated with genetic disorders such as Gaucher disease.

“I learned quite late in my career about the trauma the whole family experiences shuttling to different doctors and thinking they passed on the wrong genes. Every human on this planet is a carrier of several dozen genetic diseases,” said Dr. Mistry. “I want to remove the label of genetic disease when I discuss this condition. The psychological burden of having Gaucher disease shouldn’t be any more than having high cholesterol. This is a very complex condition, and our core mission is to deliver science-driven holistic care.”