The role of Immunity in Fabry Disease and Hypertension: A Review of a Novel Common Pathway

High Blood Press Cardiovasc Prev. 2020 Dec;27(6):539-546. doi: 10.1007/s40292-020-00414-w. Epub 2020 Oct 12.


Fabry disease is a progressive, X-linked inherited lysosomal storage disorder where accumulation of glycosphingolipids increases the risk for early cardiovascular complications, including heart failure, stroke, and end stage renal disease. Besides disease-specific therapy, blood pressure (BP) control is of central importance in Fabry disease to reduce disease progression and improve prognosis. Both Fabry disease and hypertension are characterized by the activation of the innate component of the immune system, with Toll-like receptor 4 (TLR4) as a common trigger to the inflammatory cascade. The renin-angiotensin system (RAS) participates in the establishment of low-grade chronic inflammation and redox unbalance that contribute to organ damage in the long term. Besides exploiting the anti-inflammatory effects of RAS blockade and enzyme replacement therapy, targeted therapies acting on the immune system represent an appealing field of research in these conditions. The aim of this narrative review is to examine the issue of hypertension in the setting of Fabry disease, focusing on the possible determinants of their reciprocal relationship, as well as on the related clinical and therapeutic implications.

Keywords: Fabry disease; Hypertension; Immune system; Inflammation; Oxidative stress; Renin-angiotensin system.

Publication types

  • Review

MeSH terms

  • Animals
  • Anti-Inflammatory Agents / therapeutic use
  • Antihypertensive Agents / therapeutic use
  • Antioxidants / therapeutic use
  • Blood Pressure*
  • Fabry Disease / drug therapy
  • Fabry Disease / immunology*
  • Fabry Disease / metabolism
  • Fabry Disease / physiopathology
  • Humans
  • Hypertension / drug therapy
  • Hypertension / immunology*
  • Hypertension / metabolism
  • Hypertension / physiopathology
  • Immunity, Innate* / drug effects
  • Inflammation / drug therapy
  • Inflammation / immunology*
  • Inflammation / metabolism
  • Inflammation / physiopathology
  • Inflammation Mediators / metabolism
  • Oxidative Stress
  • Renin-Angiotensin System
  • Signal Transduction
  • Toll-Like Receptor 4 / metabolism


  • Anti-Inflammatory Agents
  • Antihypertensive Agents
  • Antioxidants
  • Inflammation Mediators
  • TLR4 protein, human
  • Toll-Like Receptor 4