Fabry Syndrome Symptoms

Fabry syndrome is a multi-organ and multi-system disease, which mainly involves the renal system, nervous system, skin system, etc., and may also involve the heart, eyes and other parts of the body, with renal symptoms, neurological symptoms, skin symptoms, cardiac symptoms, and ocular symptoms.1. Renal symptoms: Fabry syndrome can lead to renal tubular insufficiency, abnormal renal function, including impairment of concentrating, diluting, and acidifying functions, and is mainly manifested by hypertension, hematuria, proteinuria, and lipuria, etc. Some patients can have edema, and some patients can even have proteinuria, oozing urine, and kidney failure from 20-40 years of age. Performance for hypertension, hematuria, proteinuria, lipuria, etc., some patients can appear edema, and even some patients can appear proteinuria, oozing urine, renal failure and other symptoms from the age of 20-40 years old; 2. Neurological symptoms: the typical manifestation is the sensory abnormality of limb, pain, and it is also a more prominent symptom of the children and adolescent patients, and the episodes will be reduced in the age of 30-40 years old; 3. Skin symptoms: the manifestation is angioglioma, which appears in children, and it is also a symptom of the adolescent patients. Angioglioma, appearing in childhood, increasing in size with age, mostly flat or mildly elevated, dark red or black, and the color does not fade when pressed. Larger angiogliomas can show mild keratinization, and skin damage can occur in any part of the body, most intensively from the waist to between the knees, often accompanied by symptoms such as little or no sweat; 4. Heart symptoms: heart injury is one of the causes of patient’s death, which is mainly manifested as conduction dysfunction, and the incidence of cardiomyopathy is gradually increasing with age, and the patients can have symptoms such as weakness, dyspnea, even Accompanied by symptoms such as jugular vein rage, hepatomegaly, ascites, edema, etc. Some patients can be combined with angina pectoris, arrhythmia, etc.; 5. Ocular symptoms: ocular symptoms are one of the characteristic changes of this disease, and corneal clouding phenomena can be seen, such as cataracts, retinal blood vessel tortuosity, dilatation, and so on, and there may be swirling deposits on the cornea, which leads to mild vision loss.