The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Eur J Intern Med. 2016 Apr 12;
Authors: Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A, Feliciani C, Dagna L, Manna R
Abstract
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme, which leads to the accumulation of its substrate, the globotriaosylceramide or Gb3, in many organs and tissues. Main clinical manifestations of FD are neuropathic pain, angiokeratomas, proteinuria and renal failure, left ventricular hypertrophy and stroke. Fever is also a possible symptom at the onset of the disease during childhood and adolescence, but it is frequently misdiagnosed, causing a delay in FD diagnosis.
METHODS: We retrospectively analysed the medical records in our series of 58 Fabry patients, focusing on the proportion of patients who exhibited fever as the main symptom at the onset of FD in order to evaluate the diagnostic delay in these patients.
FINDINGS: In our series, we found a significant proportion of patients with a history of fevers at the beginning of their medical history (20.7%; 12/58). 83% of patients with fever also exhibited acroparesthesias (10/12). Inflammatory markers were elevated in few of those cases (2/12). The mean diagnostic delay was 15.6±SD 12.8years.
INTERPRETATION: Fever emerged to be common as part of the FD cli...

Source: European Journal of Internal Medicine - April 11, 2016 Category: Internal Medicine Authors: Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A, Feliciani C, Dagna L, Manna R Tags: Eur J Intern Med Source Type: research