DEAR DR. GOTT: My 27-year-old daughter has been diagnosed with system mastocytosis. We are aware that there is no cure but would like to know what you can tell us about the disorder. Do you know of any effective treatments? We are very concerned for her health and future. Is it hereditary? Any help and information would be appreciated.
DEAR READER: Systemic mastocytosis (SM) is considered to be an “orphan disease” meaning it is rare and affects a very small number of people. It is an accumulation of mast cells in more than one part of the body. Mast cells are made in the bone marrow, are distributed throughout the body and are though to fight infection, respond to allergic substances, and repair damaged tissue. It is usually diagnosed in adults although children may also be affected.
There are four types, the most common (which also has the best prognosis) is cutaneous (skin) indolent SM. This form is slow to develop and doesn’t appear to affect life expectancy. Beyond that is SM that affects the circulatory system and blood (which presents with several types of blood disorders), aggressive SM which develops rapidly, and the most rare form, mast cell leukemia.
Symptoms depend on the type of SM. Cutaneous presentations can include hives, flushing, and itching. Internal presentations can include swollen/enlarged lymph nodes, an enlarged spleen or liver, abdominal pain, nausea, vomiting, gastro-esophageal reflux disease, diarrhea, anemia, and various bleeding disorders.
Systemic mastocytosis is genetic and autoimmune but no link has been found that it is hereditary; however, given that this condition is rare, research is still on-going, so your daughter may wish to seek genetic counseling before making the decision whether or not to have children.
Treatment is available but is based on the signs and symptoms that each patient presents with and may include antihistamines, chemotherapy, and more. Most patients are advised to carry an Epi-Pen at all times.
I urge your daughter to sit down with her doctor for an in-depth discussion about what the diagnosis means, what her treatment options are, and what she may be able to expect in the future. She may also benefit from seeing a top-notch specialist at a teaching hospital or someplace such as one of the Mayo or Cleveland clinics. This is a rare diagnosis so a second opinion will be beneficial.