/™@ What is a Hereditary Angioedema (HAE) attack? US HEREDITARY ANGIOEDEMA ‘ASSOCIATION a Se ea Praise suWI MINSA MadedU @ 15:42 e © Type 2. This form of the disease affects babies by age 3 to 6 months. Itis fatal. In most cases children don't live beyond 2 years old. © Type 3. Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement. What causes Gaucher disease? Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. Itis an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher. Parents may have only 1 GBA gene and, therefore, not show any signs of the disease, but be carriers of the disease. Gaucher disease type 1 is most, commonly found among Ashkenazi Jews who have 1 hopkinsmedicine.org MINSAMadeaU UIE 15:42 What are the symptoms of Gaucher disease? Each person's symptoms may vary. For many people, symptoms start in childhood. Some people have very mild symptoms. ‘Symptoms of Gaucher disease can include: © Enlarged spleen © Enlarged liver © Eye movement disorders © Yellow spots in the eyes © Not having enough healthy red blood cells (anemia) © Extreme tiredness (fatigue) © Bruising MINSAMadeau @° — 16:42 @ Genetic Disorders What is Gaucher disease? Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms. Your spleen and liver may get very large and stop working normally. The disease can also affect your lungs, brain, eyes, and bones. There are 3 types of Gaucher disease: © Type 1. This is the most common type of Gaucher disease. It affects about 90% of people with the disease. If you have type 1, you don't have enough platelets in your blood. This can make you bruise easily and feel very @ hopkinsmedicine.orgMINSAMadeau LTE 15:42 o- How is Gaucher disease diagnosed? ‘To make a diagnosis, your healthcare provider will look at your overall health and past health. He or she will give you a physical exam. Your provider will also look at: © Your description of symptoms © Your family medical history © Blood test results Because Gaucher disease has so many different symptoms, it can take time to get an accurate diagnosis. How is Gaucher disease treated? ‘There is no cure for Gaucher disease. But treatment an haln vai cantral vawir svmntams 1 hopkinsmedicine.org MaGamede = @ ee ryt What are the complications of Gaucher disease? Gaucher disease can cause other health problems such as: © Delayed growth © Delayed puberty © Weak bones © Bone pain © Brain damage © Joint pain © Trouble walking or getting around aA @ hopkinsmedicine.org a ie a qa Qo MINSAMadeaU LTE 18:42 o- How is Gaucher disease treated? There is no cure for Gaucher disease. But treatment can help you control your symptoms. Your treatment will depend on what type of Gaucher disease you have. Treatment may include: © Enzyme replacement therapy, which is effective for types 1 and 3 © Medicines © Regular physical exams and bone density screening to check your disease © Bone marrow transplant © Surgery to remove all or part of your spleen © Joint replacement surgery © Blood transfusions 4 hopkinsmedicine.orgMTNSA Madea LTE 3 15:43 os Treatment Symptoms Test Pathology outlines People also ask : What is the life expectancy of someone with Gaucher's disease? Most individuals with Gaucher disease type 1 experience easy bruising due to low levels of blood clotting cells known as platelets (thrombocytopenia), chronic fatigue due to low levels of circulating red blood cells (anemia), and an abnormally enlarged liver and/or spleen (hepatosplenomegaly). 7 #A 2 Imps/raediseases.rg gaucher- Gaucher Disease - Symptoms, Causes, Treatment | NORD MORE RESULTS How do you diagnose gauchers? v & Qgaucher’s disease MIMTNSAMadedU = 15:42 © Extreme tiredness (fatigue) What can I do to prevent Gaucher disease? If Gaucher disease runs in your family, talk with a genetic counselor. He or she can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children, Testing the brother or sister of someone with Gaucher disease may help detect the disease early. This can help with treatment. When should I call my healthcare provider? Call your healthcare provider if you have any of these symptoms: © Feeling dizzy & hopkinsmedicine.org MTNSA Madeau = 15:42 o- jaucher disease may help detect the disease early. This can help with treatment. When should I call my healthcare provider? Call your healthcare provider if you have any of these symptoms: © Feeling dizzy © Fainting © Seizures © ‘Trouble breathing © Loss of mobility © Abnormal bone fractures or bone pain Call your provider if you have new symptoms, such as joint pain or seizures. Also let your provide know if your treatment is no longer helping td control your original symptoms. 1 hopkinsmedicine.orgMINSA MadeqU @s 15:43 e Treatment Symptoms —Test__Pathology outlines MORE RESULTS What are the signs and symptoms of Gaucher's disease? Symptoms of Gaucher disease can include: ‘Enlarged spleen. «© Enlarged iver. * Eye movement disorders. + Yellow spots in the eyes. + Not having enough healthy ed blood cels (anemia) + Extreme tiredness (fatigue) # Bruising Lung problems. More items. @ psz/wuhopkinsmedicine.org Gaucher Disease | Johns Hopkins Medicine MORE RESULTS ‘At what age is Gaucher disease diagnosed? v @ Agaucher's disease WI MTNSA Madea UTES 15:43 om Treatment Symptoms —Test__Pathology outlines What enzyme deficiency causes Gaucher's disease? Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. The disorder results from the deficiency of the enzyme glucocerebrosidase. 05 Oct 2023 (M htpsemedicine medscape.com: 9 Gaucher Disease: Practice Essentials, Background, Pathophysiology MORE RESULTS ‘What are the signs and symptoms of Gaucher's disease? At what age is Gaucher disease diagnosed? v What are some interesting facts about Gaucher disease? What should a person with Gaucher's disease eat? 1B Qgauchers disease wi MINSAMadeaU UTE 18:43 e Treatment Symptoms Test Pathology outlines, ‘= mpevirareaiseases.org gauener Gaucher Disease - Symptoms, Causes, Treatment | NORD MORE RESULTS How do you diagnose gauchers? a Diagnosis and Tests Providers diagnose Gaucher disease using a blood test that checks for enzyme levels or a DNA test to see if the gene mutations causing Gaucher disease are present. To determine if you're a carrier for Gaucher disease, your provider will perform a DNA test using your saliva or blood. 21 Aug 2023 3 ntpsz/my-ctovelandetnic. org» 16. Gaucher Disease: Symptoms, Causes & Treatment MORE RESULTS What enzyme deficiency causes Gaucher's disease? What are the signs and symptoms of A gaucher's diseasewil MINSA Madea 15:50 om © _ wwwwpatedu.com Gaucher's disease is a rare disorder that causes too much of a fatty substance to build up in your organs. These organs can include the spleen, liver, lungs, bones and, sometimes, your brain. The fatty substance prevents these organs from working properly. PatEdu.com : Gaucher's Disease Images may be subject to copyright. Learn More th Share a ung iver | —Spleen (WExsevier's Healthcare Hub J m ; 5 e @ a gaucher disease baby usc Children Facing Rare Gen. wil MTINSA MadeaU UTES 15:43, cs Treatment Symptoms Test Pathology outlines ‘At what age is Gaucher disease diagnosed? v What are some interesting facts about Gaucher disease? What should a person with Gaucher's disease eat? Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if they think you're not getting enough in your diet. 12Mar 2023 ® Pitpsswwnuwebmd.com » children Treatments for Gaucher Disease - WebMD MORE RESULTS What are some fun facts about Gauchers disease? Which organ is affected by Gaucher disease? 4 gaucher's disease MINSA Madea = 15:51 c= (W Essovir's Healthcare Hub Elsevier ~ Patient Educati © Physiopedia Gaucher Disease - Physio. ‘© wurwpatedu.com PatEdu.com : Gaucher's © Heath Jade Gaucher Disease - Cause... < Lysosomal Storage Disorde Gaucher Disease | LSDSS... emtummam Mount Sinai ==. @ UM & ==" Gaucher disease Informati aber © oRDI nda Gaucher Disease - ORD I... @ a gaucher disease baby‘Ape. 15th 08:08 p.m. ‘Apr. 15th 09:45 p.m, _ Ape. 15th 10:44 p.m. e ‘Ape. 16th 00:50 a.m. ‘Ape. 16th 01:06 am.