Fatigue is common and severe in patients with mastocytosis

Abstract

Chronic fatigue is a common phenomenon in inflammatory and autoimmune conditions, in cancer, and in neurodegenerative diseases. Although pain and psychological factors influence fatigue, there is an increasing understanding that there is a genetic basis, and that activation of the innate immune system is an essential generator of fatigue. Mast cells are important actors in innate immunity and serve specialized defense responses against parasites and other pathogens. They are also major effector cells in allergic reactions. Primary disorders causing constitutively hyperactivity of mast cells are called mastocytosis and are frequently due to a gain-of-function mutation of the KIT gene encoding the transmembrane tyrosine kinase receptor. It is a clinical experience that patients with mast cell disorders suffer from fatigue, but there is a lack of scientific literature on the phenomenon. We performed a controlled study of fatigue in mastocytosis patients and document a 54% prevalence of clinical significant fatigue.