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Gaucher's disease what it is, symptoms, diagnosis, treatment
Table of Contents
1. Type 1 (non-neuropathic condition)
Symptoms of the disease are mainly due to the accumulation of glucocerebroside in the liver, spleen, and bone marrow. Patients also often experience bone pain, osteoporosis, fractures, and joint changes. The course of disease is usually slow and proper treatment allows patients to lead relatively normal lives. It is characterized by the absence of neurological symptoms, which means that the nervous system is not damaged. The most common of these include enlarged liver (hepatomegalia) and splenomegaly, as well as haematological problems such as anemia, thrombocytopenia (low blood pressure) and pulmonary embolism.2. Type 2 (neuropathic spleen, infant)
As early as the first few months of a child's life, symptoms such as delayed neurological development, stiffness, tremors, and difficulty breathing appear. Children with type 2 usually do not live long because the disease leads to rapid damage to the brain and other organs. It is characterized by the early onset of serious neurological symptoms. As the disease progresses, motor skills are lost, and muscle tension becomes increasingly weakened. Type 2 Gaucher disease is the most severe form that occurs mainly in infants.3. Type 3 (neuropathic, youthful)
Although initially less severe, they gradually progress and lead to severe damage to the nervous system over time. Neurological symptoms gradually worsen over time, leading to greater impairment of motor and cognitive functions. Although type 3 has a more diverse course than type 2, they also require intensive medical care to manage symptoms and support neurological function (D.A. Pastores 2023). Neurologic symptoms begin to appear later than type 2 usually in late adolescence.4. The following is a list of the diseases and disorders that occur in Poland:
The basis of the diagnosis is the identification of the activity of the glucocerebrosidase enzyme in blood cells or fibroblasts. An important part of diagnosis is also genetic testing that detects mutations in the GBA gene responsible for the disease. Haematological studies allow to identify symptoms such as anemia and low blood platelet levels. In addition, the patient's motor and cognitive functions are monitored to track the progress of the disease (N.J. Early diagnosis is key because it allows for rapid introduction of appropriate treatment that can improve the quality of life of patients.5. It is not possible to use this method to prevent the spread of infectious diseases
In some cases, substrate therapy is also used, which inhibits the production of glucocerebroside if enzyme therapy is inadequate. T Supportive therapy, such as anti-cancer medicines or neurological rehabilitation, aims to improve the quality of life of patients, although the prognosis in these cases is often unfavorable. Stirnemann et al. 2017). In type 1, the main method is substitution enzyme (ERT), which consists of regularly administering a synthetic enzyme glucoserebroside to eliminate accumulated glucose and alleviate symptoms such as enlargement of the liver and spleen.6. The role of diet in the treatment of Gaucher' s disease Guidelines
The pharmacological treatment of Gaucher's disease, including enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), forms the basis of therapy, but proper nutrition plays a key role in supporting, alleviating certain symptoms, improving patient comfort and supporting general health, especially in the context of problems with the bone system, blood system, lipid management and metabolic processes that are characteristic of the disease.7. The diet for Gaucher's disease is a guide
Regular meals help maintain stable blood glucose levels and support the proper functioning of the body (F. This is the basis for creating a diet for patients with Gaucher's disease. Carubbi et al. 2021).8. Taking care of the bone system
Vitamin D can be found in fatty seafood (salmon, mackerel, sardines), eggs and mushrooms (butterflies), but its dietary intake is often insufficient, so supplementation should be considered in consultation with a doctor. Adequate intake of calcium and vitamin D promotes bone mineralization and reduces the likelihood of breakdown (A. A good source of magnesium is dairy products (yogurt, cheese, kefir), legumes, tofu, nuts, and leafy greens (e.g. maple, blueberry). Osteopenia or osteoporosis are frequent metabolic consequences of this disease.9. A diet high in iron
Vitamin B12 and folic acid are also necessary to support blood-forming processes Their source is eggs, fish, dairy products and leafy green vegetables (NCEZ, 2024). It is worth noting that iron of plant origin is better digested when combined with vitamin C found in lemons, peppers, kiwi or parsley. Anemia is a common problem in patients with Gaucher disease, so it is recommended to include in the diet foods such as lean meat, red liver, spinach, beans, peanut butter, squashes, and seeds of legumes.10. The right amount of protein in the diet
A lean source of animal protein, such as poultry, fish or lean beef, as well as plant protein found in lentils, pulses, beans, tofu and nuts should be selected. (Carubbi et al. 2021) Approximately 2025% of daily energy consumption is essential for tissue regeneration and supporting the functioning of organs such as liver and spleen, which can be increased by the accumulation of glucocerebroside (F).11. A diet rich in fiber and whole grains
Consuming unsaturated fats supports metabolic health and helps regulate insulin levels and lipid economy. Martins, S.V. This is particularly important in the context of metabolic problems, including insulin resistance, which can occur in Gaucher's disease. It is also recommended to avoid saturated fats (e.g. in fatty meats, fried foods, fast foods) and simple sugars, which may increase inflammation, disrupt glucose metabolism, and affect the development of insulin-dependent acid (F.O. Conde 2022).12. The potential of an anti-inflammatory diet
A well-balanced diet, while not a substitute for pharmacological treatment, can promote the regeneration of the body, improve quality of life and reduce the risk of complications associated with Gaucher's disease. Any dietary change should be tailored to the patient's needs and consulted with the attending physician or clinical dietitian. Antioxidant-rich products such as strawberries, green tea or spices can help reduce inflammation that is common in this disease.
