💉 Mast Cell Activation Disorder | Diagnosis Discussion ⚕🗣

Summary

In this video, Jaquie discusses her experience with Mast Cell Activation Disorder (MCAD), an immunological condition causing chronic symptoms like itching, rashes, and anaphylaxis. She explains the role of mast cells in immune responses and how MCAD affects various body systems. Jaquie shares her personal symptoms, triggers, and treatments, including avoiding allergens, using masks, and taking medications like H1 and H2 blockers. She also undergoes IVIG therapy to regulate her immune system. Diagnosed at 21, she emphasizes the unpredictable nature of MCAD and her efforts to manage it proactively.

Takeaways

• 🧬 Mast cells are master regulators of our immune system, found in every tissue and play a significant role in inflammatory and allergy responses.
• 🚨 Mast Cell Activation Disorder (MCAD) is an immunological condition where mast cells release chemical mediators excessively, leading to chronic symptoms.
• 🌀 Symptoms of MCAD include allergy-related issues like itching, rashes, hives, swelling, as well as more severe effects like anaphylaxis.
• 🤒 MCAD can affect other body systems such as neurologic, gastric, and respiratory, causing a wide range of symptoms like GI distress, headaches, and fatigue.
• 🌪️ Idiopathic anaphylaxis is a spontaneous, unprovoked reaction without a known cause, which can be unpredictable and scary.
• 🌿 The narrator has environmental allergies, including sensitivities to nature, cigarette smoke, and strong scents like perfume.
• 😷 To manage MCAD, the narrator uses various masks to filter allergens and takes medications like H1 and H2 blockers, mast cell stabilizers, and IV Benadryl.
• 💉 Intravenous immunoglobulin (IVIG) is used to treat the narrator's immune system, which in turn helps regulate MCAD symptoms.
• 🔬 There are different types of MCAD, with the narrator diagnosed with Mast Cell Activation Syndrome, not Systemic Mastocytosis.
• ⏱️ The narrator's symptoms began mild at puberty and worsened around age 20, with a diagnosis at 21 after various tests including elevated histamine levels.
• ⚠️ There is no cure for MCAD, and it requires careful management and preparation to handle the unpredictable and sometimes life-threatening symptoms.

Q & A

What are mast cells and what role do they play in the body?

Mast cells are master regulators of our immune system and are found in every tissue of our body. They play a significant role in inflammatory and allergy responses.

What is Mast Cell Activation Disorder (MCAD)?

MCAD is an immunological condition where the body's mast cells inappropriately and excessively release chemical mediators like histamine, leading to a range of chronic symptoms.

What are some typical symptoms of MCAD?

Symptoms of MCAD include itching, rashes, hives, swelling, throat tightness, flushing, and more extreme effects like near anaphylaxis and full-blown anaphylaxis.

Can MCAD symptoms extend beyond allergy-related issues?

Yes, MCAD symptoms can include GI distress, headaches, inflammation, body aches, bone pain, fatigue, and affect other systems such as neurologic, gastric, and respiratory.

What is idiopathic anaphylaxis and how does it relate to MCAD?

Idiopathic anaphylaxis is a spontaneous reaction or full-blown anaphylaxis with no known cause, which can be particularly scary and unpreventable for someone with MCAD.

What are some known triggers for Jaquie's MCAD?

Jaquie's known triggers include environmental allergens, cigar and cigarette smoke, and some strong scents like perfume, although not every strong scent affects her.

How does Jaquie manage her MCAD symptoms?

Jaquie manages her MCAD by avoiding known triggers, wearing masks to filter allergens, taking H1 and H2 blockers, mast cell stabilizers, and using IV Benadryl for severe reactions.

What is the purpose of IVIG treatment in Jaquie's case?

IVIG (Intravenous immunoglobulin) is used to help Jaquie's immune system become stronger and regulate itself more effectively, which in turn helps manage her MCAD.

What is the difference between Mast Cell Activation Syndrome and Systemic Mastocytosis?

Mast Cell Activation Syndrome is one type of MCAD where symptoms are due to mast cell activation, while Systemic Mastocytosis involves an abnormal increase in mast cells throughout the body. Jaquie has Mast Cell Activation Syndrome, which was confirmed after ruling out Systemic Mastocytosis through a bone marrow biopsy.

How was Jaquie diagnosed with Mast Cell Activation Syndrome?

Jaquie was diagnosed with Mast Cell Activation Syndrome at age 21 after blood work showed elevated histamine, normal tryptase (which does not rule out the syndrome), and 24-hour urine histamine tests were elevated, along with a positive response to treatment.

What is the current outlook for MCAD in terms of a cure or management?

There is currently no cure for MCAD, and it can be a tricky condition to manage. It is unpredictable and sometimes life-threatening, especially with idiopathic anaphylaxis, so Jaquie remains proactive, careful, and prepared.