Your initial search for a diagnosis of systemic mastocytosis (SM) will most likely start with your primary care doctor, though getting a diagnosis is often complicated by the fact that it shares several characteristic features of other diseases.
Because of this, you will likely need to be referred to a specialist for diagnostic tests. A specialist can provide access to the latest treatments and research, as well as personalized care for your condition.
What is systemic mastocytosis?
Systemic mastocytosis (SM) is a rare white blood cell disorder. It affects mast cells, which are part of the body’s immune system, causing them to proliferate excessively and collect in the skin, bones, joints, lymph nodes, spleen, liver and gastrointestinal tract. These cells originate in the bone marrow and release an immune response of histamine, heparin, cytokines and growth factors to protect the body against harmful intruders such as bacteria, parasites and allergens.
When activated, they cause an allergic reaction that results in symptoms such as flushing of the face, hives, skin irritation, muscle and joint pain, stomach cramps, nausea, vomiting, mood changes, low blood pressure and even anaphylaxis. For people living with SM, these symptoms are triggered by events such as insect stings, stress, physical effort, sudden changes in temperature, certain foods and medication, alcohol and friction on the skin.
Learn more about SM testing and diagnosis
How to get specialist treatment for systemic mastocytosis
People living with SM are generally cared for by a hematologist. Other physicians such as dermatologists, gastroenterologists and pulmonologists may also be part of your care team. If you are already under the care of a primary doctor, you can ask them for a referral to a specialist near you.
There is no cure for systemic mastocytosis, and finding the right treatment, adjusting to the symptom burden and learning to avoid symptom triggers can be challenging. It is also a rare disease, meaning many doctors may not be knowledgeable in diagnosing and treating it. By seeing a specialist, you will be sure of continuity of care with a physician who has experience in treating the disease.
How a specialist can help with SM treatment and management
Your specialist will help you with a diagnosis, prescribing medications to help manage symptoms, providing advice on avoiding symptom episode triggers and giving tips for living with SM on a daily basis. If your SM progresses, your specialist will monitor your symptoms, help you to prevent complications and adjust your treatment plan accordingly.
To participate proactively in your disease management journey, be prepared to communicate openly with your specialist. Ask questions and keep your specialist up to date on any new symptoms or changes to your quality of life.
