Fabry disease is an X-linked generalized progressive debilitating lysosomal storage disorder. The disease usually manifests in childhood, but the diagnosis is often made following the occurrence of late-stage complications such as progressive kidney failure.

Synopsis

 systemic anomalies

• retarded growth
• delayed puberty

 ocular anomalies

• Whorl-like corneal dystrophy in heterozygous females and hemizygous males

 cardiovascular anomalies

• coronaropathy
• cerebral vascular anomalies
• Left ventricular wall and septal hypertrophy
• Lymphedema
• Myocardial infarction
• Valvular disease (mitral)
• Congestive heart failure

 Mild obstructive lung disease
 Limited extension of terminal joints

 cutaneous anomalies

• Hypohidrosis
• Angiokeratoma

 Glycosphingolipid deposition in all areas of the body
 Lipid-laden macrophages in bone marrow

Biology

 Proteinuria
 Alpha-galactosidase A deficiency in plasma, leukocytes, or fibroblasts
 Increased level of globotriaosylceramide in plasma and urinary sediment
 renal sinus cysts (parapelvic kidney cysts) (#15327390#)

Etiology

 Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)