TIME: 15 minutes
- Look at the four texts, A-D, in the separate Text Booklet.
- For each question, 1-20, look through the texts, A-D, to find the relevant information.
- Write your answers in the spaces provided in this Question Paper
- Answer all the questions within the 15-minute time limit.
- Your answers should only be taken from texts A-D and must be correctly spelt.
Note: You Can Highlight Keywords In the Reading Text
Text A: Gaucher Disease
Definition and Types:Gaucher disease is a rare genetic disorder caused by the deficiency of an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down fatty substances in the body. When it is deficient, fatty substances accumulate in certain organs, particularly the spleen, liver, and bone marrow, leading to organ enlargement and malfunction. Gaucher disease is classified into three types:
– Type 1: The most common form, primarily affecting the liver and spleen.
– Type 2: A severe form that impacts the central nervous system and often leads to early death.
– Type 3: A chronic, slowly progressive form that affects the liver, spleen, and brain.
Symptoms and Manifestations:
Symptoms of Gaucher disease vary widely but may include an enlarged liver and spleen (hepatosplenomegaly), anemia, fatigue, bone pain, fractures, and easy bruising due to low platelet counts. Neurological symptoms such as seizures and developmental delays are common in Type 2 and 3 Gaucher disease. Gaucher disease is typically diagnosed through a combination of clinical evaluation, blood tests to measure enzyme levels, and genetic testing to identify mutations in the GBA gene. MRI scans may also be used to assess organ enlargement and bone involvement. While there is no cure for Gaucher disease, enzyme replacement therapy (ERT) can help manage symptoms and prevent disease progression in many patients, particularly those with Type 1 and Type 3. Another option is substrate reduction therapy (SRT), which aims to reduce the buildup of fatty substances by limiting their production. Patients with severe bone issues may also require orthopedic surgery.
Text B: Managing Gaucher Disease
Patients with Gaucher disease benefit from a comprehensive care plan that includes regular monitoring and lifestyle adjustments. Since the disease affects multiple organs, regular check-ups with specialists such as hematologists, hepatologists, and orthopedists are critical. Routine blood tests are essential for monitoring enzyme levels, liver function, and platelet counts. Patients are advised to follow a balanced diet and engage in moderate physical activity to maintain bone health and manage fatigue. Since bone fragility is a significant issue in Gaucher disease, weight-bearing exercises and calcium and vitamin D supplements are often recommended. However, high-impact activities that could result in fractures should be avoided.
Living with a rare chronic condition like Gaucher disease can be emotionally challenging. Psychological support, including counseling and participation in support groups, can help patients and their families manage stress, anxiety, and feelings of isolation. Additionally, educating patients about their condition empowers them to take an active role in their treatment and lifestyle choices.
Children with Gaucher disease, particularly Type 2 and Type 3, may experience developmental delays and neurological symptoms. Early intervention programs that include physical therapy, occupational therapy, and speech therapy can help address developmental challenges. Pediatric patients also require specialized care for growth and bone health.
Text C
Rehabilitation and Long-Term Monitoring:
Rehabilitation programs focusing on muscle strength and mobility are essential for patients with Gaucher disease, particularly those who experience bone and joint complications. In some cases, surgical intervention such as joint replacement may be required. Long-term monitoring of organ health is crucial, as the disease can cause liver and spleen enlargement over time, affecting overall health and quality of life.
Text D: Treatments for Gaucher Disease
Treatment | Form | Route of Administration | Purpose | Common Side Effects |
Enzyme Replacement Therapy (ERT) | Intravenous (IV) Infusion | Intravenous (IV) | Replaces deficient enzyme, reduces symptoms | Infusion reactions (fever, rash), headache |
Substrate Reduction Therapy (SRT) | Oral Medication | Oral | Reduces production of fatty substances | Diarrhea, weight loss, nausea |
Pain Management | Oral Medication (Analgesics) | Oral | Manages bone pain and discomfort | Drowsiness, constipation, dizziness |
Calcium and Vitamin D Supplements | Oral Tablets | Oral | Strengthens bones, prevents fractures | Nausea, stomach upset |
Orthopedic Surgery | Surgical Procedure | Local or General Anesthesia | Corrects bone deformities, joint replacement | Infection, bleeding, post-operative pain |
Physical Therapy | Exercise Regimen | Supervised Exercise | Improves mobility and muscle strength | Muscle soreness, fatigue |
END OF PART A
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