Know the signs and symptoms of
Gaucher Disease

Find out if you may be suﬀering and
what you can do to get diagnosed.

Note: This is not a diagnostic tool. Diagnosis of Gaucher Disease requires a review of one’s medical history by a healthcare professional as well as a comprehensive assessment by a genetic/metabolic/treatment centre.

1. Stirnemann J, Belmatoug N, Fabrice Camou et al. Int J Mol Sci 2017:18(2);441-471

2. Mistry PK, Sadan S, Yang R et al. Am J Hematol 2007;82(8):697-701.

3. National Organization for Rare Disorders. Gaucher Disease. Available from: www.rarediseases.org/rare-diseases/gaucher-disease. Accessed January 3, 2019.

What is Gaucher Disease (GD)?

A rare, progressive and potentially life-threatening genetic disease. ^{1, 2}

Affects both males and females, and the age of onset ranges from childhood to adulthood.³

A multi-systemic condition caused by the accumulation of a type of lipid called glucocerebroside in tissues and organs.²

1.Mistry PK, Sadan S, Yang R et al. Am J Hematol 2007;82(8):697-701.

2.National Gaucher Foundation. Gaucher Disease Prognosis and Life Expectancy. Available from www.gaucherdisease.org/about-gaucher-disease/life-expectancy. Accessed January 3, 2019.

3.Mistry PK, Cappellini M, Lukina E et al. Am J Hematol 2011;86(1):110-115.

4.National Gaucher Foundation. Prenatal Screening and Genetic Counseling for Gaucher Disease. Available from: www.gaucherdisease.org/gaucher-diagnosis-treatment/testing/screening. Accessed January 3, 2019.

Why is it important to get diagnosed as early as possible?

Early recognition is key to minimize the accumulation of glucocerebroside lipid which in turn may help reduce the risk of damage to organs.¹

Delays in diagnosis can lead to serious, irreversible health consequences, missed reproductive counselling opportunities, and delays in diagnosis of at-risk family members.^1-4

Have you ever been diagnosed with anemia?
Anemia, also known as iron-poor blood, is a common disorder that occurs when a deﬁciency in your red blood cells impedes delivery of oxygen throughout your body.

YES
NO
I’VE NEVER BEEN TESTED

Symptoms of anemia may include: extreme fatigue, weakness, pale skin, chest pain, fast heartbeat or shortness of breath, headache, dizziness or lightheadedness, cold hands and feet, inflammation or soreness of your tongue, brittle nails, unusual cravings for non-nutritive substances, such as ice, dirt or starch and poor appetite, especially in infants and children with iron deficiency anemia.

Have you ever been diagnosed with thrombocytopenia or low blood platelets?

YES
NO
I’VE NEVER BEEN TESTED

Symptoms of thrombocytopenia may include: easy or excessive bruising, superficial bleeding into the skin that appears as a rash of pinpoint-sized reddish-purple spots, usually on the lower legs, prolonged bleeding from cuts, bleeding from your gums or nose, blood in urine or stools, unusually heavy menstrual flows, fatigue, enlarged spleen, jaundice.

Do you have an enlarged spleen, also known as splenomegaly?

YES
NO
I’VE NEVER BEEN TESTED

Symptoms of splenomegaly: no symptoms in some cases, pain or fullness in the left upper abdomen that may spread to the left shoulder, feeling full without eating or after eating only a small amount from the enlarged spleen pressing on your stomach, anemia, fatigue, frequent infections, easy bleeding.

Have you suffered from any of the following conditions?
Select the conditions that you suffer from.

BONE CRISISAcute episodes of severe skeletal pain and fever accompanied by an increase in the number of white cells in the blood and elevated erythrocyte sedimentation rates
OSTEOPENIALow bone mineral density
OSTEOPOROSISDisease characterized by low bone mass/mineral density and structural deterioration of bone tissue, which can cause unexplained break or fracture
OSTEONECROSIS/ AVASCULAR NECROSIS/ ISCHEMIC BONE NECROSISBone death due to loss of blood to the bone

Have you suffered from pulmonary hypertension?
Pulmonary hypertension is characterized by high blood pressure that affects the arteries in the lungs and the right side of the heart.

YES
NO
I’VE NEVER BEEN TESTED