Getting Diagnosed Systemic mastocytosis is typically diagnosed by specialists, such as allergists or oncologists.
If a physician suspects you have Systemic Mastocytosis (SM) based on your symptoms, they may do some initial lab workups, including testing your blood and urine to determine if there are high levels of serum tryptase, a substance produced by mast cells. A definitive diagnosis of SM is reached by taking small tissue samples called biopsies to determine if there is an abnormal build-up of mast cells in the skin, bone marrow and other organs. A genetic test may also be helpful in diagnosing SM since almost all patients with SM have a mutation, known as KIT D816V, in the KIT gene.
Because SM is a rare disease, many physicians may not be familiar with it. Symptoms of SM can also resemble other chronic diseases. Together, these factors can contribute to a delay in diagnosis. According to a survey of patients with mastocytosis and other mast cell disorders conducted by The Mastocytosis Society, the median time from onset of symptoms to diagnosis is three years. During that process, patients may see several different physicians and specialists.
Access an article that describes steps that may be followed to diagnose mastocytosis and other mast cell disorders.
Find the right doctors – because SM is rare, many doctors have never seen a case before; keep going until you’ve got the right medical team in place.
From a Patient with Aggressive SM