IllnessMorbus Fabry, differential diagnosis

NGS +

[Sanger]

Fabry disease is a progressive, multisystemic lysosomal storage disorder characterised by neurological, cutaneous, cardiovascular, cochleo-vestibular and cerebrovascular symptoms. The clinical picture covers a wide spectrum, ranging from mild cases in heterozygous women to severe courses in classically affected hemicygous men with no residual activity of alpha-galactosidase A. These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, renal insufficiency), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischaemic attacks, stroke) symptoms of the disease. Female patients can have very mild to severe symptoms. Fabry disease is caused by mutations in the GLA gene. A negative genetic finding practically rules out Fabry's disease.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1292/

• Alias: Alpha-galactosidase A deficiency
• Alias: Anderson-Fabry disease
• Alias: Angiokeratoma corporis diffusum
• Alias: Diffuse angiokeratoma
• Allelic: Kanzaki disease (NAGA)
• Adult-onset α-galactosidase B deficiency, Schindler disease (NAGA)
• Adult-type β-galactosidase deficiency (GLB1)
• Aspartylglucosaminuria (AGA)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Fucosidosis (FUCA1)
• Mannosidosis, beta (MANBA)
• Schindler disease, type I (NAGA)
• Schindler disease, type III (NAGA)
• Sialidosis, type I (NEU1)
• Sialidosis, type II (NEU1)