DEAR DR. GOTT: My granddaughter has been diagnosed with Gaucher’s disease. She is a 20-year-old college student and has been able to keep up with work and travel opportunities so far. Has anything new been discovered about this illness? What treatment is available? Both her father and mother are carriers, and I found that I am, too. On my side, I realized that my grandfather must have been a carrier, since both his sisters died as young women. My own doctor knows very little about this illness. I know it is rare. Please let me know if, and where, it is being studied. Thank you.
DEAR READER: Gaucher’s (pronounced go-shayz) disease is genetic, meaning it is caused by an inherited malformation. This causes a deficiency of the enzyme glucocerebrosidase, which is responsible for metabolizing the fatty substance glucocerebroside. It most commonly occurs in those of Eastern European (Ashkenazi) Jewish descent.
There are 34 known mutations than can cause the disorder. Of these, four account for 95 percent of all cases that affect those of Askenazi descent and 50 percent of all cases within the general population.
There are three types of Gaucher’s. Type 1 is the most common, accounting for 90 percent of all cases. It can occur at any age but is most common in adults, with the average age of 30 at the time of diagnosis. It doesn’t typically damage the brain but can cause skeletal abnormalities, nosebleeds, an enlarged spleen and/or liver, yellow spots in the eyes, delayed puberty, excessive fatigue, anemia and susceptibility to bruising.
Type 2 is rare and the most severe form. It develops during a baby’s first year and progresses rapidly. Symptoms include those of type 1 and also rigidity, cognitive deterioration (including mental retardation and dementia) and seizures.
Type 3 is also rare and typically begins in childhood or adolescence. It progresses more slowly than type 2 and tends to be chronic. The brain is affected, but this is usually milder than type 2. Symptoms may include any of those in the first two types but may occur more frequently. Abnormal eye movements and loss of muscle coordination may also be seen.
Diagnosis can be confirmed by evaluating levels of the deficient enzyme and/or through genetic testing.
Type 1 may not require treatment if symptoms are mild. Both type 1 and type 3 can also be treated with enzyme-replacement therapy, bone marrow transplant and medication. There is no specific treatment for type 2.
Those with mild forms of Gaucher’s, especially those who develop it in adulthood, can expect close to normal life expectancies. Children with type 2 do not often live past age 2. Those with type 3 who survive into their teens generally live for many more years.
Gaucher’s disease can be difficult to deal with for both the sufferer and his or her family. Based on your letter, I suspect your granddaughter may have a mild form, and, if this is the case, she may not need treatment at all. You do not say whether she is receiving treatment and, if so, what kind; therefore, I cannot offer you any other advice. I do recommend that she be under the care of a physician familiar with this disorder. She may also benefit from a support group, likely online due to the rare nature of her illness. You and she may also wish to check out the National Gaucher Foundation website ( www.Gaucher Disease.org) to keep up to date with research, clinical trials (of which there are several currently recruiting), treatment and more. You can also phone (800) 504-3189 or write for further information to the National Gaucher Foundation, 2227 Idlewood Road, Suite 6, Tucker, GA 30084.