Replagal infusion and Fabry's disease

Indication:  It is indicated for long term enzyme replacement therapy with confirmed cases of Fabry disease.

Fabry disease: Fabry disease is rare inherited disease caused by recessive X-link due to mutation of GLA (alfa-galactosidase gene). It means the people who are suffering from Fabry disease does not have enough GLA which breaks down the fatty substance called globotriaosylceramide (Gb3). If GLA is not present, Gb3 will not break down and build up in cells, such as kidney cells and can cause renal insufficiency and renal failure. If these fatty cells deposit in heart cells, it increases the risk of heart disease, which manifest in form of cardiomyopathy and HTN.  Angiokeratomas are dermatological manifestations of Fabry disease. And, keratopathy is the ocular manifestations of Fabry disease.

Treatment: Replagal is infused every two weeks over 40 minutes at a dose of 0.2 mg/kg body weight.

Coding: Fabry disease is classified ICD-9-CM in Endocrine, Nutritional and Metabolic Diseases, and Immunity under category 272, Disorders or lipid metabolism and it is coded to 272.7, Lipidosis. Infusion of Replagal for 40 minutes is coded to CPT code 96365.