Introduction to Fabry disease

Introduction Fabry disease - (Farre disease) is a very rare X-linked genetic glycosphingolipid metabolism disease, the pathogenesis of which is due to the congenital deficiency of α-galactosidase A (α-GalA) in patients Thus, the human metabolites sphingosine trihexosylglycoside (Gb3) and ceramide hexosamine dihexosides cannot be cleaved, accumulating in the blood vessels and organs of patients, causing very severe pain in the limbs, and on the kidneys and heart. The brain, nerves and other organs cause serious damage and cause lesions, and the condition is progressively aggravated. If it is not treated effectively, it will be life-threatening. The cause of Fabry disease (Frebe disease) is a very rare X-linked genetic glycosphingolipid metabolism disease, the pathogenesis of which is due to the congenital deficiency of α-galactosidase A (α-GalA) in patients Thus, the human metabolites sphingosine trihexosylglycoside (Gb3) and ceramide hexosamine dihexosides cannot be cleaved, accumulating in the blood vessels and organs of patients, causing very severe pain in the limbs, and on the kidneys and heart. The brain, nerves and other organs cause serious damage and cause lesions, and the condition is progressively aggravated. If it is not treated effectively, it will be life-threatening. Fabry disease is a lysosomal storage disease (ICD-10-E). Due to a mutation in the gene encoding α-galactosidase (α-GAL), the patient lacks α-galactosidase, making some lipids, especially trihexosylceramide (GL3), unable to be metabolized. And accumulate in the lysosome, leading to various clinical symptoms. The disease is inherited in a X-linked recessive manner. Most of the patients are male and have severe symptoms. Women with a disease-causing gene are usually milder than men. Clinical manifestations Most of the clinical symptoms begin to appear in children or adolescents, and male symptoms are heavier. The main clinical manifestations of the disease include: (1) intermittent pain or paresthesia in the hands and feet, the degree of pain is like a burning feeling, and in normal cases, it is impossible to live and work normally. Pain can last from a few minutes to a few days, sometimes recurring. Pain usually occurs when the temperature is high or seasonal, and can be exacerbated after exercise. (2) Red or purple-black vascular keratomas (angiokeratoma) often appear in the lower abdomen, thighs, scrotum, and external genitalia. The degree of lesions often increases with age, and the patient's ears, oral mucosa, conjunctiva, and nails may also develop lesions. Ocular vertebral opacity is a characteristic manifestation of the disease. Diagnosis of the disease is often misdiagnosed as rheumatism, arthritis, growth pain or psychogenic pain, and is even considered to be a patient. Clinical diagnosis is based on pain in the extremities, skin lesions, vortex corneal opacity, and the discovery of lipid-filled cells in urine or tissue samples. Alpha-galactosidase assay can confirm the diagnosis. Enzymatic and genetic testing of individuals with a family history can screen patients and carriers early. The treatment of Fabry disease can be divided into symptomatic treatment and enzyme replacement therapy. Enzyme replacement therapy can supplement the lack of enzymes in patients, keep lipid metabolism normal, improve patients' symptoms and prevent disease progression.