3 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.
4 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.
5 Symptoms Bone pain and fractures Cognitive impairment Easy bruising Enlarged spleen, liverFatigueHeart valve problemsLung diseaseSeizuresSevere swelling at birthSkin changes
9 Coping with GaucherWide variety of physical, emotional and social challenges.Managing PainFighting FatigueAddressing Apperance
10 Treatment and Prevention Enzyme replacement therapy availableBone marrow transplant needed in severe casesGenetic counseling is recommended for possible parents with a family history of Gaucher.Testing determines if parents carry gene to pass on diseasePrenatal test can tell if fetus has Gaucher
14 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 5Adults with Type 1 can expect normal life expectancy with enzyme replacement therapy
15 Pain ManagementPain 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.
17 Fighting FatigueFatigue 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.
19 Cure No known cure for Gaucher disease. Treatment for Type 2 and 3 Gaucher is enzyme replacement theapy or bone marrow transplantType 1 Gaucher disease has no known cure or treatment.
20 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.