Fabry disease
The Fabry syndrome is an inherited genetic disorder that significantly impacts the quality of life of patients. This condition was first described by a German physician, Johannes Fabry. The underlying pathological process of the disease is due to the deficiency of an important enzyme, alpha-galactosidase. As a result, globotriaosylceramide (GL-3) accumulates in the cells, particularly in the lysosomes, leading to various organ damage.
Diagnosis
The diagnosis of Fabry syndrome is not always straightforward, especially when classic symptoms do not manifest immediately. Early detection is crucial for successful treatment. Due to the various manifestations of the disease, patients’ anxieties and symptoms encompass a wide spectrum, posing additional challenges during diagnosis.
Genetic Disorder
Fabry syndrome is a genetic disorder that involves the malfunction of enzymes. Enzymes, also known as biocatalysts, accelerate biochemical reactions, allowing for the smooth progression of various life processes. In the case of Fabry syndrome, the lack of the alpha-galactosidase enzyme hinders fat metabolism processes, leading to the aforementioned accumulation of GL-3. The disease falls under lysosomal storage disorders, which also affect the normal functioning of cells.
Symptoms
The symptoms of Fabry syndrome typically present in young boys and often begin in the form of pain. Patients frequently experience chronic, variable-intensity, burning or tingling pain in the limbs. Characteristic symptoms associated with the disease include decreased sweating, fatigue, and aversion to physical activity. After intense physical activity, fever and elevated body temperature may also occur. During adolescence, reddish-purple skin rashes appear, which are the most noticeable signs of Fabry syndrome.
These keratomas, which appear in various color variations, are raised, rough-textured lesions on the skin’s surface. Additionally, star-shaped spots may appear on the cornea, which do not affect vision. Gastrointestinal complaints such as post-meal pain, diarrhea, and nausea may also occur. Due to kidney damage, patients may experience increased urination, proteinuria, and hypertension. Enlargement of the heart and abnormal functioning of the valves can lead to arrhythmias and even sudden cardiac arrest. Symptoms can vary depending on the extent of the enzyme deficiency and the location of GL-3 accumulation in the body.
Treatment
The treatment of Fabry syndrome requires a complex approach, as the disease affects multiple organ systems. Dermatologists can effectively remove angikeratomas with laser treatments. The use of artificial tears is recommended for the treatment of decreased tear production. Heart and kidney diseases can be managed with medications and other medical interventions.
Neurological symptoms, such as pain, can also be treated with medications like phenytoin or carbamazepine. Early diagnosis and treatment can significantly contribute to improving patients’ quality of life and increasing life expectancy. Regular monitoring by trained physicians and the replacement of the missing enzyme—produced artificially—can reduce the risk of heart, kidney, and neurological damage.
Genetic Testing
Fabry syndrome can occur in anyone who inherits the defective gene, making genetic testing important for potentially affected individuals. Genetic counseling during family planning can help understand the inheritance pattern and assess the risk of future manifestations of the disease.
