Upload
lysa
View
90
Download
3
Tags:
Embed Size (px)
DESCRIPTION
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. - PowerPoint PPT Presentation
Citation preview
GAUCHER DISEASEBy: 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
Patient one has this extra band.
Gene believed to carry Gaucher disease
Bio http://www.mayoclinic.com/health/gauche
rs-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