Systemic Mastocytosis

What is Systemic Mastocytosis?

Mast cells are an important part of the immune system because they help to keep the body free of disease and illness by generating various substances including histamine and heparin. Systemic mastocytosis is a disorder that occurs when a large number of mast cells build up in various organs of the body, such as the spleen, liver, small intestine and also in the bone marrow.

This condition is caused by a KIT gene mutation and it occurs in adults and children of both genders. Children will most likely be diagnosed before they turn three years old.

What are the Symptoms of Systemic Mastocytosis?

The symptoms associated with this disorder will vary depending on the specific areas of the body and the organs that have an overabundance of mast cells. When individuals have systemic mastocytosis they will first notice tiny dark-colored dots on their stomach or on the inside of their thighs that can turn into hives.

Additional symptoms include diarrhea, headaches, vomiting and feeling faint. Some people experience anaphylaxis, which is a severe allergic reaction. Individuals may also become short of breath and their blood pressure level will drop. Adult females may experience uterine bleeding and cramping. It is common for individuals to have an enlargement of the lymph nodes, spleen and liver.

Systemic Mastocytosis Causes

The exact cause of Systemic Mastocytosis isn’t known; however, studies into the condition show that genetics play a role. A mutation in the KIT gene that’s called a KIT mutation (KIT is a gene responsible for signaling proteins) makes mast cells more sensitive to a signaling protein. In some cases, this mutation is passed down through family, but in most cases, it’s a spontaneous mutation. The KIT mutation causes more mast cells to develop, and when that happens they accumulate in the internal organs leading to the symptoms of this disease. This condition is an advanced auto-immune disorder that leads to severe organ damage. Symptoms aren’t always present, especially in the beginning stages, and some triggers cause symptoms to appear. The goal during this stage is to learn what the triggers are and to avoid them. As the disease progresses, continuous medication may be needed. Systemic mastocytosis mainly affects adults; children are primarily affected by cutaneous mastocytosis.

How is Systemic Mastocytosis Treated?

Various medications are often prescribed to individuals to treat the symptoms of this disorder. Ketotifen is used to control some of the issues that develop on the skin. Headaches and body pains are treated with cromolyn sodium.

Additional medications may include epinephrine to treat anaphylaxis and to bring up a person’s blood pressure level. Antihistamines, protein pump inhibitors and steroids are also common prescriptions used for systemic mastocytosis symptoms. If this condition causes mast cell leukemia, individuals will need chemotherapy or interferon treatments. People who have osteoporosis or osteopenia are often prescribed bisphosphonates.

Systemic Mastocytosis Prevention

While there is little knowledge as to what exactly causes Systemic Mastocytosis, the best prevention for this condition is to stay healthy through exercise and make sure that your diet is balanced and nutritious. There is also some evidence suggesting that the toxins in the environment influence mutations. Though there isn’t a cure for the condition, some people have reported success following a holistic lifestyle, which has been found to improve their symptoms and increase their quality of life. Even with traditional medicines, there isn’t a cure for this condition. The only thing that can help is to treat the symptoms and try to improve quality of life for patients. Clinical studies are being performed regarding a drug called midostaurin. In the small trials, patients saw an improvement in their quality of life and eighty percent of patients saw a reduction in spleen size. Sixty percent of patients in the trial saw a complete or partial correction to organ damage commonly seen with this disease.