Question 1

What is mastocytosis?

Accepted Answer

Mastocytosis is a rare disorder characterized by an abnormal accumulation of mast cells in various organs and tissues throughout the body. It is caused by genetic mutations that lead to excessive mast cell production, which releases high amounts of histamine and other inflammatory substances into the bloodstream. The Histamine, Plasma test is the most important test for diagnosing mastocytosis because it directly measures histamine levels that indicate excessive mast cell activity.

Question 2

What causes mastocytosis?

Accepted Answer

Mastocytosis is caused by genetic mutations, most commonly in the KIT gene, that trigger abnormal growth and accumulation of mast cells throughout the body. These mutations cause mast cells to multiply excessively and accumulate in organs like the skin, bone marrow, liver, spleen, and gastrointestinal tract. The abnormal mast cells release excessive amounts of histamine, tryptase, and other chemical mediators that cause the characteristic symptoms of flushing, itching, abdominal cramping, and in severe cases, life-threatening anaphylaxis.

Question 3

What is the best test for mastocytosis?

Accepted Answer

The Histamine, Plasma test is the most important blood test for mastocytosis because it directly measures the amount of histamine circulating in your bloodstream, providing evidence of excessive mast cell activity. In mastocytosis, abnormally high numbers of mast cells release large amounts of histamine, causing symptoms like flushing, hives, abdominal pain, and potentially dangerous allergic reactions. The Histamine Release (Chronic Urticaria) test is also essential because it measures how readily your mast cells release histamine, helping confirm the characteristic mast cell dysfunction seen in mastocytosis. Together, these tests provide comprehensive evidence of abnormal mast cell behavior that defines this rare condition.

Question 4

When should I get tested for mastocytosis?

Accepted Answer

You should get tested if you experience unexplained episodes of flushing, severe itching, or hives that occur repeatedly without an obvious trigger. Testing is especially important if you have frequent abdominal pain, diarrhea, or nausea combined with skin symptoms, or if you have experienced severe allergic reactions or anaphylaxis without a clear cause. You should also consider testing if you have persistent fatigue, bone pain, or enlarged liver or spleen, as these can indicate systemic mastocytosis affecting internal organs beyond just the skin.

Question 5

What are the symptoms of mastocytosis?

Accepted Answer

Mastocytosis symptoms result from the release of histamine and other chemicals from excessive mast cells. Common symptoms include flushing of the skin, itching, hives or rash, abdominal cramping, diarrhea, nausea, and vomiting. Many people experience headaches, rapid heartbeat, low blood pressure, and bone pain. In severe cases, mastocytosis can trigger life-threatening anaphylaxis with difficulty breathing, severe drop in blood pressure, and loss of consciousness. Symptoms often occur in episodes triggered by alcohol, certain foods, temperature changes, stress, medications, or insect stings.

Question 6

Who is at risk for mastocytosis?

Accepted Answer

Mastocytosis can affect anyone, but certain patterns exist depending on the type. Cutaneous mastocytosis, which affects only the skin, most commonly appears in children before age 2 and often resolves by puberty. Systemic mastocytosis, which affects internal organs, typically develops in adults between ages 20 and 40 and is usually a lifelong condition. There is no clear hereditary pattern for most cases, as the genetic mutations typically occur spontaneously rather than being inherited. People with a family history of mast cell disorders may have a slightly higher risk, but mastocytosis remains a rare condition overall.

Question 7

What happens if mastocytosis is left untreated?

Accepted Answer

If mastocytosis is left untreated, you risk experiencing increasingly severe allergic reactions that could lead to life-threatening anaphylaxis requiring emergency medical intervention. Chronic release of histamine and inflammatory mediators can cause progressive damage to organs including the liver, spleen, and gastrointestinal tract, leading to malabsorption, nutritional deficiencies, and organ dysfunction. Bone marrow involvement in systemic mastocytosis can result in anemia, bleeding problems, and in rare aggressive forms, progression to mast cell leukemia. Early diagnosis and management are essential to prevent complications, manage symptoms effectively, and maintain quality of life.

Question 8

Can mastocytosis be diagnosed with a blood test?

Accepted Answer

Blood tests play an important role in diagnosing mastocytosis, though a definitive diagnosis typically requires multiple approaches. The Histamine, Plasma test measures elevated histamine levels that indicate excessive mast cell activity, while tryptase blood tests can reveal elevated levels of this enzyme released by mast cells. However, complete diagnosis usually requires a bone marrow biopsy to confirm the presence of abnormal mast cell accumulation and identify genetic mutations like the KIT D816V mutation. Blood tests are valuable for initial screening, monitoring disease activity, and guiding treatment decisions when combined with other diagnostic findings.

Question 9

How is mastocytosis treated?

Accepted Answer

Mastocytosis treatment focuses on controlling symptoms and preventing severe allergic reactions since there is no cure for the condition. Antihistamines are the primary treatment to block histamine effects and reduce flushing, itching, and gastrointestinal symptoms. Mast cell stabilizers like cromolyn sodium help prevent mast cells from releasing histamine and other mediators. All patients should carry an epinephrine auto-injector for emergency treatment of anaphylaxis. In aggressive forms of systemic mastocytosis, targeted therapies like tyrosine kinase inhibitors or chemotherapy may be necessary. Treatment is individualized based on symptom severity and which organs are affected.

Question 10

How can I prevent mastocytosis symptoms?

Accepted Answer

While you cannot prevent mastocytosis itself, you can minimize symptom flares by identifying and avoiding your personal triggers. Common triggers include alcohol, certain medications like aspirin and NSAIDs, extreme temperatures, physical exertion, emotional stress, insect stings, and specific foods. Keep a detailed symptom diary to identify patterns and triggers unique to you. Always inform healthcare providers about your mastocytosis before procedures or surgeries, as anesthesia and contrast dyes can trigger severe reactions. Carry an epinephrine auto-injector at all times and wear a medical alert bracelet. Taking prescribed antihistamines regularly, even when symptom-free, helps maintain a protective baseline and prevents breakthrough symptoms.

Question 11

What natural remedies help with mastocytosis symptoms?

Accepted Answer

While natural remedies cannot replace medical treatment for mastocytosis, certain approaches may help manage symptoms alongside prescribed medications. A low-histamine diet that avoids aged cheeses, fermented foods, alcohol, and processed meats can reduce symptom triggers. Quercetin, a natural flavonoid found in onions and apples, has mast cell stabilizing properties that some people find helpful. Vitamin C may help break down histamine in the body. Stress reduction techniques like meditation, gentle yoga, and deep breathing exercises can minimize stress-triggered mast cell activation. However, always discuss any supplements with your doctor before use, as some may interact with medications or trigger symptoms in sensitive individuals.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Mastocytosis Blood Test

What is Mastocytosis?

What causes mastocytosis?

What is the best test for mastocytosis?

When should I get tested for mastocytosis?

References

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