However, a small number of females carrying only one copy of the mutated GLA gene never shows any symptoms of Fabry disease. Cause
Mutations to the GLA gene encoding α-GAL may result in complete loss of function of the enzyme. α-GAL is a lysosomal protein responsible for breaking down globotriaosylceramide, a fatty substance stored various types of cardiac and renal cells. When globotriaosylceramide is not properly catabolized, it is accumulated in cells lining blood vessels in the skin, cells in the kidney, heart and nervous system. As a result, signs and symptoms of Fabry disease begin to manifest. Treatment
There are three treatment options for Fabry disease: recombinant enzyme replacement therapy, pharmacological chaperone therapy, and organ specific treatment. Recombinant enzyme replacement therapy (RERT)
RERT was approved as a treatment for Fabry disease in the United States in 2003.Two recombinant enzyme replacement therapies are available to functionally compensate for α-galactosidase deficiency. Agalsidase α and β are both recombinant forms of the human α-galactosidase A enzyme and both have the same amino acid sequence as the native enzyme. Agalsidase α and β differ in the structures of their oligosaccharide side chains.In Fabry disease patients, 88% percent of patients develop IgG antibodies towards the injected recombinant enzyme, as it is foreign to their immune system. One suggested approach to solving this problem involves converting the paralogous enzyme α-NAGAL (NAGA) into one that has with α-GAL activity. Because patients still have a functional NAGA gene, their immune system will not produce NAGA antibodies.
Wear warm shoes, socks and gloves. Wear a hat and a scarf to protect the ears and the nose. Avoid tight fitting socks/shoes. Other
Exercise at least four times a week to improve circulation. Quit smoking, as it damages circulation. Treatment
Nifedipine and amlodipine, which are vasodilators in the class of drugs known as calcium channel blockers, may help in some cases. Vasodilation may reduce pain, facilitate healing, and prevent recurrences. It is typically available in an oral pill but can be compounded into a topical formula. Diltiazem, a vasodilator, may help. Apply a mixture of friars balsam and a weak iodine solution. History
The medieval Balds Leechbook recommended treating chilblains with a mixture of eggs, wine, and fennel root. A modern-day home remedy is to put garlic on the chilblains. Neither of these remedies has been supported by scientific research. COVID-19
Chilblain-like symptoms have also been linked to COVID-19. COVID toes, as they are commonly known, have mostly been reported in older children and adolescents, who often have not had other symptoms of COVID-19. The symptoms are usually mild and disappear without treatment. Their cause is debated: it is uncertain whether COVID toes are a delayed consequence of the viral infection itself or are, at least partially, connected to environmental factors during the COVID-19 pandemic. They may share some of the microscopic features of chilblains caused by lupus.