SNP Shot: Genomic Insights

Systemic mastocytosis is a blood disorder impacting various body systems. Although it can manifest at any age, it usually appears after adolescence.

Common signs and symptoms include extreme fatigue, skin flushing and warmth, nausea, abdominal pain, bloating, diarrhea, gastroesophageal reflux, nasal congestion, shortness of breath, low blood pressure, lightheadedness, and headaches. Some individuals experience attention or memory deficits, anxiety, or depression. Urticaria pigmentosa, a skin condition characterized by raised, brownish, itchy or stinging skin patches triggered by contact or temperature changes, frequently occurs. About half of affected individuals experience severe allergic reactions (anaphylaxis).

Systemic mastocytosis is classified into five subtypes based on severity and symptoms. Indolent and smoldering systemic mastocytosis represent the milder forms, primarily presenting with the general signs and symptoms described above. Smoldering mastocytosis may affect more organs and exhibit more severe characteristics than indolent mastocytosis. Indolent systemic mastocytosis is the most prevalent subtype.

Aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia constitute the severe subtypes, associated with a reduced life expectancy that varies by subtype and individual. These types typically involve organ dysfunction (e.g., liver, spleen, or lymph nodes), leading to complications like ascites (fluid buildup in the abdominal cavity). Aggressive systemic mastocytosis is also linked to bone loss (osteoporosis and osteopenia) and fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia involve blood cell disorders or leukemia. Mast cell leukemia is the rarest and most severe form.

Individuals with milder forms generally have a normal or near-normal lifespan, whereas those with more severe forms typically survive for months or a few years after diagnosis.

Inheritance:

The condition typically arises from a somatic mutation (a genetic change occurring after conception) and is not usually inherited.