Mastocytosis is a very rare condition that is part of a group of disorders called “Orphan diseases”. These are defined as diseases that affect fewer than 200,000 individuals in the U.S.
The rarity of this condition has led to it be misunderstood and, because its symptoms can mimic those of other disorders including common allergies, often misdiagnosed. But this is a serious illness that requires regular treatment in order to control it.
The first step in successful treatment of any disease or disorder is understanding exactly what it is. Mastocytosis is defined as a disorder of the immune system that is characterized by the presence of too many mast cells in the body. Mast cells are a key part of the immune system. Among their many functions, they send out alarms to the rest of the body when a threat is detected. These alarms will result in the production of helpful substances such as histamines.
What causes mastocytosis to occur?
Mast cells can also play a part in the healing of wounds. It is the production of histamine triggered by the mast cells that produces the itching sensation you experience as wounds are healing. If too many mast cells accumulate in the body, the result can be a disruption in these important warning signals, leading to improper response to allergens, illnesses and other threats. Since the immune system is the body’s natural line of defense, it is imperative that it function properly in order to avoid serious illness.
Mastocytosis can occur locally in the skin or it can involve certain organs including the spleen and liver. When it spreads to the organs it is known as systemic mastocytosis. This more serious form is more common among adults, whereas children tend to develop the localized form. The causes of mastocytosis remain something of a mystery, though scientists believe that a particular genetic mutation may be the main culprit.
Recent studies into mastocytosis have focused on determining the specific cause of the condition. Researchers at the National Institutes of Health have been working to isolate and identify genetic mutations that are related to increased production of mast cells. In particular, a mutation known as the c-KIT mutation has been linked to the production of mast cells within the bone marrow by making the body more sensitive to a protein known as stem cell factor or SCF.
Are there any treatments?
A number of studies are also being conducted to determine the most effective treatments for mastocytosis. Without a better idea of the cause of the disease, finding an effective treatment can be a challenge. For the more mild dermatological form of the disease, steroid creams have been found to work quite well. These creams help to prevent the mast cells from releasing histamine and triggering skin inflammation.
Other treatments include antihistamines and sodium cromoglicate, which can help to reduce allergy related symptoms including itching, eye irritation and rhinitis. More serious forms of mastocytosis involving the internal organs may require other medications to target specific symptoms such as abdominal cramping, bone pain or anaphylaxis. With research aimed at improving the diagnosis of mastocytosis, doctors hope to be able to improve treatment over time.
Mastocytosis can be a frightening diagnosis but it doesn’t have to be. This disorder varies in severity and can be successfully treated once proper diagnosis has been made. The important thing is to get a handle on your case quickly and start on the right course of treatment. Once you have done so, you should be able to live a full and healthy life, symptom free.