Mastozytose – klinisches Bild

Abstract

Mastocytosis describes a group of disorders which are characterized by a pathologic increase of mast cells in various tissues. The extent of organ involvement, the severity of clinical symptoms, and the prognosis of patients suffering from mastocytosis may be highly variable. The clinical presentation of mastocytosis ranges from isolated cutaneous disease (cutaneous mastocytosis; CM) to systemic types of mastocytosis (systemic mastocytosis, SM). The latter commonly involves the bone marrow, liver, spleen, lymph nodes and/or the gastrointestinal tract. Symptoms of mastocytosis either result from the activation of mast cells with consecutive release of mediators and/or from the pathologic accumulation of mast cells in various tissues. Skin dysfunction is induced by the local action of mediators, which are released from mast cells upon mechanical or thermal stress. Anaphylactic symptoms may occur in all types of mastocytosis, even in patients with cutaneous involvement only. If anaphylactic reactions occur in patients with mastocytosis, these reactions are most often severe and sometimes even fatal. Diagnostic work-up and treatment of anaphylactic reactions is urgently required. Cutaneous mastocytosis has a good prognosis in children, and often remits several years after the diagnosis has been made. In adults cutaneous mastocytosis with or without systemic mastocytosis is usually persistent. Systemic mastocytosis may occur without significant clinical symptoms (indolent SM; ISM) or may have a major impact on the health of the patients (aggressive SM; ASM). ASM is associated with major medical symptoms, e.g. with osteoporotic fractures especially of the vertebral column or hematologic abnormalities. ISM is without effect on survival time, but life expectancy is significantly shortenend in at least 40% of ASM patients with associate myeloproliferative diseases.