Overview
Systemic mastocytosis (SM) is a rare disorder in which an excessive number of mast cells accumulate in various parts of the body, including the skin, bone marrow, digestive tract, and other organs. Mast cells are a type of white blood cell that play a role in the immune system and help protect the body from disease. In SM, these excess mast cells can cause symptoms when triggered, releasing substances such as histamine, leukotrienes, and cytokines that lead to allergic reactions and inflammation. Common triggers include alcohol, spicy foods, insect stings, exercise, and certain medications. Symptoms can vary depending on the affected organ and may include flushing, itching, abdominal pain, diarrhea, bone and muscle pain, enlarged liver or spleen, and mood changes. Most cases of SM are caused by a random genetic mutation in the KIT gene, which is not typically inherited. Complications can include anaphylactic reactions, blood disorders, peptic ulcer disease, reduced bone density, and organ failure. If you have concerns about these symptoms or signs, it is essential to consult with a healthcare professional.
Understanding the disease
Symptoms
The symptoms of systemic mastocytosis depend on the part of the body affected by excessive mast cells. They can include flushing, itching or hives, abdominal pain, diarrhea, nausea or vomiting, anemia or bleeding disorders, bone and muscle pain, enlarged liver, spleen or lymph nodes, and depression, mood changes, or problems concentrating. Common triggers for symptoms include alcohol, skin irritation, spicy foods, exercise, insect stings, and certain medications. It's important to consult a doctor if you have problems with flushing or hives or have concerns about these symptoms.
Assessment and Diagnosis
Triage
You should see a doctor if you have problems with flushing or hives, or if you have concerns about the signs or symptoms listed above. These symptoms may indicate systemic mastocytosis, and a doctor can help determine the underlying cause and recommend appropriate treatment.
Diagnosis
To diagnose systemic mastocytosis, your doctor will likely start by reviewing your symptoms and discussing your medical history, including medications you've taken. They may then order tests that look for high levels of mast cells or the substances they release. These tests may include blood or urine tests, bone marrow biopsy, skin biopsy, imaging tests like X-rays, ultrasound, bone scan, and CT scan, biopsy of organs affected by the disease, such as the liver, and genetic testing. Your doctor will use the results from these tests to determine the type and severity of your systemic mastocytosis.
Management and Treatment
Complications
Potential complications of systemic mastocytosis may include anaphylactic reaction, blood disorders such as anemia and poor blood clotting, and peptic ulcer disease. Chronic stomach irritation can lead to ulcers and bleeding in the digestive tract. Excessive mast cell buildup in organs can cause inflammation and damage to the affected organ.
Home Remedies
It is important to consult with a healthcare professional for proper diagnosis and treatment of systemic mastocytosis as it is a rare and potentially serious condition.
Treatment
Treatments for systemic mastocytosis may vary depending on the severity and specific symptoms. The following treatments are commonly used:
- Medications: Antihistamines can help relieve symptoms such as itching, hives, and flushing. Other medications, like H1 and H2 blockers, may also be prescribed to reduce inflammation and allergy symptoms. For anemia and bone marrow involvement, your doctor may recommend erythropoietin or androgens like danazol.
- Avoidance of Triggers: Identifying and avoiding known triggers, such as alcohol, spicy foods, exercise, insect stings, and certain medications, can help manage symptoms.
- Supportive Care: In more severe cases, supportive care may be necessary. This can include intravenous fluids, antihistamines, or corticosteroids to manage symptoms, particularly in cases of anaphylactic reactions.
- Surgery: In rare cases, surgery may be necessary to remove masses or tumors formed by mast cells, particularly in cases of aggressive forms of systemic mastocytosis. It's essential to consult with a healthcare professional who is knowledgeable about systemic mastocytosis, as they can provide personalized guidance and recommendations based on your specific situation.
Preparing for medical consultation
To prepare for an appointment for systemic mastocytosis, you should:
- Make a list of your symptoms, including any that may seem unrelated to the reason for your appointment.
- Compile a list of all medications, vitamins, and supplements you are currently taking.
- Write down your key medical information, including any other conditions you have.
- Note any recent changes or stressors in your life that may be relevant to your health.
- Prepare a list of questions to ask your doctor during the appointment. Some questions to ask your doctor include:
- Will my systemic mastocytosis clear on its own or do I need treatment?
- What can I do at home to relieve my symptoms?
- How might my condition affect my overall health and well-being?
- If I continue to breast-feed, is the medication you're prescribing safe for my baby?
- How long will I have to take the medication?
- What are the chances that the infection will recur? How do I minimize my risk of recurrence? Remember to bring this information with you to your appointment and don't hesitate to ask additional questions that arise during the visit.