Evidence for Inflammation in Fabry’s Disease? Headache and Muscle Involvement Responding to Corticosteroid and Methotrexate Treatment

J Neurol (2017). doi:10.1007/s00415-017-8392-4


We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. She was treated with low dose corticosteroids which reduced muscle pain. Twelve years later, Fabry’s disease was diagnosed by molecular genetics. Lupus erythematosus and any other co-morbid rheumatologic diseases were falsified retrospectively and prospectively according to international classification criteria [1]. Corticosteroid therapy was stopped, but the pain exacerbated. Four rheumatologic examinations within the next 5 years brought no evidence for a rheumatic disease. Cornea verticillata, multiple angiokeratomas and small fiber neuropathy were found as typical manifestations of Fabry’s disease. Detailed neurophysiological studies excluded polyneuropathy of the large fibers. There was no renal or cardiac impairment. MRI of the brain showed no pulvinar sign.

This case illustrates, that in addition to the deposition of lyso-gb3 secondary inflammatory mechanisms may play an important role in the pathophysiology of symptoms in Fabry’s disease. The c.-174G>C polymorphism in the IL6 gene, which is known to be correlated with a worse outcome in Fabry’s disease [2], was not found in this patient. Nevertheless, we suspect an interleukin associated necrosis of the media vessel lamina with consecutive vasculitis.


  • Prof. Arndt Rolfs , MD
  • Prof. Peter Berlit , MD
  • Nesrin Karabul , MD
  • Markus Kraemer , MD