Gaucher Disease By: Melissa Sanders

What is it? Gaucher disease is a rare genetic disorder where a person lacks an enzyme called glucocerebrosidase. Not having this enzyme causes harmful substances to build up in the liver, spleen, bones and bone marrow. These substances prevent the organs and cells from working properly.

Three subtypes of Gaucher Type 1. Most common. Involves bone disease, anemia. Affects children and adults. Popular in Ashkenazi Jewish population. Type 2. Begins in infancy with severe neurologic involvement. Leads to rapid, early death. Type 3. Cause liver, spleen and brain problems. Patients live into adulthood.

Symptoms Bone pain and fractures Cognitive impairment Easy bruising Enlarged spleen, liver Fatigue Heart valve problems Lung disease Seizures Severe swelling at birth Skin changes

Inheritance Gaucher is a recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease.

Coping with Gaucher Wide variety of physical, emotional and social challenges. Managing Pain Fighting Fatigue Addressing Apperance

Treatment and Prevention Enzyme replacement therapy available Bone marrow transplant needed in severe cases Genetic counseling is recommended for possible parents with a family history of Gaucher. Testing determines if parents carry gene to pass on disease Prenatal test can tell if fetus has Gaucher

Enzyme Replacement Therpy

Bone Marrow Transplant Needle

Prognosis with Gaucher How well a person does depends on subtype. Infantile Gaucher disease may lead to early death. Most affected children die before age 5 Adults with Type 1 can expect normal life expectancy with enzyme replacement therapy

Pain Management Pain associated with type 1 Gaucher disease can go from minimal to severe. At worst, bone pain can limit normal activities, small movements are painful, sleep is difficult and may force individual to undergo hospitalization. Lifestyle changes may be necessary to minimize pain.

Fighting Fatigue Fatigue results from anemia and an enlarged liver or spleen. Severe anemic will feel tired even after full night of sleep. Ordinary activities require more effort but most find they can engage in normal activities if they pace themselves and plan accordingly.

Cure No known cure for Gaucher disease. Treatment for Type 2 and 3 Gaucher is enzyme replacement theapy or bone marrow transplant Type 1 Gaucher disease has no known cure or treatment.

Addressing Appearance Body image can be difficult for people with an enlarged spleen or liver. Being smaller in stature is also a common concern. Children and adults may be teased or ridiculed for looking fat, pregnant or different.

Organizations www.gauchercare.com/patient/living.aspx www.ncbi.nlm.nih.gov/pubmed/20635362 www.investmentguide.co.uk/gaucher/living.htm www.childrensgaucher.org/.../living-with-gaucher-disease-valerie-yannias www.bioscrip.com/default.aspx?tabid=253

Stain of three patients Patient two and three are normal individuals Gene believed to carry Gaucher disease Patient one has this extra band. 

Bio http://www.mayoclinic.com/health/gauchers-disease/DS00972/DSECTION=treatments-and-drugs www.ncbi.nlm.nih.gov www.mayoclinic.com/health/gauchers-disease/DS00972 www.medicinenet.com › home › gaucher disease index