| • | AKA angiokeratoma corporis diffusum |
| • | X-linked recessive; mnemonic – they always show a picture of some guys dick covered with angiokeratomas (and X-linked recessive is always male) |
pathogenesis:
| • | defective enzyme alpha-galactosidase A (AKA ceramide trihexosidase) |
| • | leads to accumulation of neutral glycosphingolipids (ceramide trihexoside) with preferential deposition in vascular endothelium resulting in ischemia and infarction (à vessels become ectatic = lesion) |
clinical:
| • | skin – angiokeratomas (umbilicus to knees) |
| • | kidney – progressive renal failure with proteinuria (UA: “maltese cross” findings = birefringent lipid globules seen with polarizing microscopy) |
| • | acral pain and paresthesias are very specific findings (virtually never see them except in mercury/ heavy metal poisoning; erythromelalgia) |
| • | cerebrovascular accidents |
| • | eyes – characteristic corneal opacities with a whorl-like configuration |
| • | prognosis: premature death in 5th decade secondary to CVA, MI, or renal failure |
| • | mnemonic: picture a heavy metal band named “maltese cross” with lead singer Fabry (who is in a scandalous X-rated video with his wife who paints whorl-like configurations) |
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