E75.21

Approximate Synonyms

• Fabry’s disease

• Fabrys disease

Clinical Information

• A rare x-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase a. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.

• An x-linked inherited metabolic disease caused by a deficiency of lysosomal alpha-galactosidase a. It is characterized by intralysosomal accumulation of globotriaosylceramide and other glycosphingolipids in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

• X-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase a and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.

Details

• E75.21 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.21 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.21 – other international versions of ICD-10 E75.21 may differ.