Understanding Fabry Disease: An In-Depth Look at the Top 10 Symptoms

2. Skin Lesions: An Indication of Underlying Issues

Another visible sign of Fabry disease is the appearance of small, reddish-purple skin lesions called angiokeratomas. These lesions can be found on various parts of the body, including the thighs, buttocks, groin, and lower abdomen. They result from the accumulation of Gb3 in blood vessel walls, causing inflammation and damage to the skin.

While angiokeratomas are generally harmless and painless, they can be a source of embarrassment and discomfort for those affected. Treatment options for angiokeratomas include laser therapy, cryotherapy, and topical medications. However, these treatments may only provide temporary relief, as the underlying cause of the lesions, Gb3 accumulation, remains unaddressed. (2)