💉 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.

Outlines

00:00

🧬 Mast Cell Activation Disorder Explained

Jaquie from 'chronically Jaquie' introduces her diagnosis of Mast Cell Activation Disorder (MCAD), emphasizing the variability of chronic illness experiences. She explains that mast cells, which regulate the immune system, can release excessive chemical mediators in MCAD, leading to chronic symptoms such as itching, rashes, hives, swelling, throat tightness, and flushing. More severe symptoms include anaphylaxis. MCAD affects various body systems, including neurologic and respiratory. Jaquie's personal symptoms include itching, rashes, inflammation, and anaphylaxis. She describes idiopathic anaphylaxis, which has no known cause and can be spontaneous and frightening. Jaquie also discusses her known triggers, such as environmental allergens and strong scents, and her treatment strategies, including avoiding triggers, wearing masks, taking H1 and H2 blockers, and using IV Benadryl for severe reactions. She mentions her use of an emergency kit and the importance of treating her immune system with IVIG to help regulate her mast cell activation.

05:05

🩺 Diagnosis Journey and Management of MCAD

Jaquie shares her personal journey with MCAD, noting that she did not experience symptoms her entire life but began having mild issues at puberty, which worsened around age 20. She underwent various tests, including blood work for histamine and tryptase, and 24-hour urine histamine tests, which supported her diagnosis of Mast Cell Activation Syndrome at age 21. She clarifies that there is no cure for MCAD, and it requires careful management due to its unpredictable nature, especially concerning idiopathic anaphylaxis. Jaquie expresses her commitment to proactive and careful management, striving to maintain a positive outlook and continue her diagnosis discussion series to educate and support others.

Keywords

💡Mast Cells

Mast cells are immune cells that play a crucial role in the body's inflammatory and allergy responses. They are found in every tissue and act as master regulators of the immune system. In the context of the video, the speaker discusses how mast cells, when not functioning properly, can lead to Mast Cell Activation Disorder (MCAD), which is the main theme of the video. The speaker's personal experience with MCAD is central to the narrative, illustrating how mast cell dysfunction can manifest in various symptoms.

💡Mast Cell Activation Disorder (MCAD)

Mast Cell Activation Disorder is an immunological condition where mast cells release chemical mediators excessively and inappropriately. This results in a range of chronic symptoms, from typical allergy-related issues like itching and hives to more severe effects like anaphylaxis. The video focuses on the speaker's journey with MCAD, highlighting the complexity and variability of symptoms, which can include GI distress, headaches, and fatigue. The disorder is not limited to allergy-related issues and can affect multiple body systems.

💡Histamine

Histamine is a chemical mediator released by mast cells during immune responses, particularly in allergic reactions. In the video, the speaker mentions that MCAD involves the inappropriate release of histamine, leading to chronic symptoms. Histamine is a key player in the allergic and inflammatory responses that characterize MCAD, and its release is a central mechanism in the disorder's pathology.

💡Anaphylaxis

Anaphylaxis is a severe, potentially life-threatening allergic reaction that can occur rapidly and requires immediate medical attention. The video discusses how MCAD can lead to near anaphylaxis or full-blown anaphylaxis, emphasizing the seriousness of the condition. The speaker's personal experience with idiopathic anaphylaxis, which has no known cause, adds a layer of unpredictability and fear to living with MCAD.

💡Idiopathic Anaphylaxis

Idiopathic anaphylaxis refers to anaphylactic reactions that occur without an identifiable trigger. In the video, the speaker describes this as one of the most frustrating aspects of living with MCAD, as it is difficult to prevent reactions that have no known cause. This term is significant in the narrative as it captures the unpredictable nature of the speaker's condition and the challenges it presents in daily life.

💡Environmental Allergies

Environmental allergies are hypersensitivity reactions to substances in the environment, such as pollen, mold, or animal dander. The speaker in the video mentions having environmental allergies, which are part of their MCAD experience. These allergies can trigger mast cell activation and the subsequent release of chemical mediators, contributing to the chronic symptoms of MCAD.

💡H1 and H2 Blockers

H1 and H2 blockers are medications that inhibit the action of histamine, which is released during allergic reactions. In the video, the speaker discusses taking these blockers as part of their treatment for MCAD. These medications help to mitigate the symptoms of histamine release, providing relief from allergy-related issues and contributing to the management of MCAD.

💡Cromolyn

Cromolyn is a mast cell stabilizer, a type of medication that prevents the release of histamine and other chemical mediators from mast cells. The speaker in the video takes Cromolyn as part of their treatment for MCAD. It is used to help manage symptoms by reducing the frequency and severity of mast cell activation episodes.

💡Intravenous Immunoglobulin (IVIG)

Intravenous Immunoglobulin is a treatment that involves infusing immunoglobulins directly into the bloodstream. The speaker mentions receiving IVIG to help regulate their immune system, which is dysfunctional in MCAD. IVIG therapy aims to strengthen the immune system and improve its ability to regulate itself, which can lead to improvements in the symptoms of MCAD.

💡Mast Cell Activation Syndrome

Mast Cell Activation Syndrome is a type of MCAD where mast cells are hyperactive and release excessive amounts of chemical mediators. The video script describes the speaker's diagnosis with this syndrome, which is confirmed through blood work, urine tests, and response to treatment. This term is central to the speaker's personal narrative and the focus of the video.

💡Systemic Mastocytosis

Systemic Mastocytosis is another type of MCAD, characterized by an abnormal increase in mast cells in various organs. The speaker in the video mentions having a bone marrow biopsy to rule out this type of MCAD. Understanding the differences between the types of MCAD is important for accurate diagnosis and appropriate treatment.

Highlights

Mast cells are master regulators of our immune system and are found in every tissue of our body.

Mast cell activation disorder is an immunological condition causing the release of chemical mediators like histamine.

Symptoms include allergy-related issues such as itching, rashes, hives, swelling, throat tightness, and flushing.

More severe symptoms can include near anaphylaxis and full-blown anaphylaxis.

Mast cell symptoms can also include GI distress, headaches, inflammation, body aches, bone pain, fatigue, and more.

Mast cell activation disorder can affect other systems of the body like neurologic, gastric, respiratory, etc.

The speaker's main symptoms are itching, rashes, inflammation, and anaphylaxis.

Mast cells can deranulate at random, causing issues with no warning.

Idiopathic anaphylaxis is a spontaneous, unprovoked, and potentially life-threatening reaction.

Known triggers for the speaker include environmental allergies, cigar and cigarette smoke, and strong scents like perfume.

Avoiding triggers is part of the treatment plan, including wearing masks to filter allergens.

The speaker takes H1 and H2 blockers, histamine blockers, and mast cell stabilizers such as Cromolyn.

IV Benadryl is used to combat severe reactions and is administered through a central line.

An emergency kit with IV Benadryl is always ready, and an EpiPen is used if the attack is too severe.

Intravenous immunoglobulin (IVIG) is used to treat the immune system, helping to regulate it more effectively.

There are different types of mast cell activation disorders, including mast cell activation syndrome and systemic mastocytosis.

The speaker's diagnosis of mast cell activation syndrome was confirmed at age 21 after various tests.

Currently, there is no cure for mast cell activation disorder, and it requires careful management.

The speaker remains proactive and prepared to manage the unpredictable nature of the condition.

Transcripts

Hi y'all! I'm Jaquie from chronically Jaquie and this is another video in my diagnosis discussion series. In this video.

I'm going to further discuss my math cell activation disorder diagnosis, but before I continue

Please remember that everybody's journey with chronic illness is different, and I'm gonna be sharing my personal experiences

Which may vary from yours, or someone you know.

Also, be sure to check out the description for the other videos in my diagnosis discussion series and helpful links.

Let me explain a little bit about what mast cells are, they are

master regulators of our immune system and found in every tissue of our body they play a big role in inflammatory and allergy

responses. Mast cell activation disorder is an immunological condition in which the body's mast cells

inappropriately and excessively

release chemical mediators like histamine this results in a range of chronic symptoms

some of which include typical allergy related issues such as

Itching, rashes, hives, swelling, throat tightness, and flushing.

more extreme effects include near anaphylaxis and full-blown anaphylaxis

But mast cell symptoms are not just secluded to what one would typically think of as allergy related issues.

It can include GI distress headaches,

inflammation, body aches, bone pain, fatigue, and more.

Mast cell is a very complex condition

that goes beyond allergy related issues, and can affect other systems of the body - such as neurologic

gastric, respiratory, and so on. My main symptoms are itching, rashes,

inflammation, and anaphylaxis.

With this condition mast cells can deranulate at random causing issues with no warning whatsoever.

One of the most frustrating things for me personally is

spontaneously going into reaction or full-blown anaphylaxis.

This is called idiopathic anaphylaxis meaning it has no known cause and it can be really scary,

because with no known trigger,

It's not very preventable and more often than not I have reactions that are unprovoked rather than one with a known cause.

However, I do have some known triggers no food allergies, but many environmental allergies.

I'm basically allergic to nature also cigar and cigarette smoke and some strong scents like perfume

But not every strong scent will set me off so it varies in that aspect.

Part of my treatment is avoiding all of these triggers to help with this.

I have a variety of masks that I occasionally wear to assist with filtering my allergens and sensitivities.

For example, if I am surrounded by my environmental allergens or somebody is smoking in an unavoidable area,

I'll put on the mask, as an extra layer of protection.

The masks I have are not foolproof, but we use it as an extra precaution to help keep me safe.

I also take H1 and H2 blockers which are histamine blockers and mast cell

stabilizers such as Cromolyn.

I take other medications to help combat symptoms such as IV benadryl that I administer through my central line during severe

Reactions in acute anaphylaxis my central line is a chest port that gives me intravenous access.

IV benadryl is the only thing fast-acting and potent enough to hopefully abort my severe reactions

And I never know when I'm going to have an attack so my port is accessed 24/7.

I also have an emergency kit with my IV benadryl ready to go at all times

But if the attack is too severe and the IV benadryl doesn't work then I use an EpiPen,

however,

Epinephrine is extremely harsh on my body and with how often I go into anaphylaxis.

It's better to use the benadryl rather than epi, if possible another treatment.

That's proven to be very beneficial for my allergies and mast cell is something

That's actually used specifically for my immune system issues,

Which makes sense because allergies and mast cells are closely tied into the immune system.

So, my immune system does work very well at all, it has some very deficient parts and some very hyperactive

Parts in the hyperactive parts of my immune system are actually what causes my math cells to go into overdrive,

Resulting in my mass cell activation disorder. We are treating my immune system with something called IVIG

Intravenous immunoglobulin it helps my immune system becomes stronger and regulate itself more effectively.

It's not a cure,

But it helps and as my immune system has stabilized on the IVIG.

My allergies and mast cell activation disorder has made improvements as well.

There are different types of mast cell activation disorders. Mine is called mast cell activation syndrome.

Another type is called systemic mastocytosis,

but I had a bone marrow biopsy that ruled that type out.

I also, did not deal with mast cell symptoms my entire life.

I began struggling with mild issues when I hit puberty at age 15,

And they became more severe when I was around age 20.

I underwent testing that included blood work for histamine and tryptase my histamine came back elevated,

But my tryptase was normal, a normal tryptase does not automatically rule out mass cell activation syndrome

that is more indicative of systemic mastocytosis. I also did several

24-hour urine histamine tests which came back elevated all of that, as well as a

Positive response to proper treatment is what got me my mast cell activation syndrome diagnosis at age 21.

Currently there is no cure for mast cell activation disorder and it can be a very tricky condition to manage it is scary and unpredictable

at times, especially with my idiopathic

Anaphylaxis, which can honestly be life-threatening so I remain as proactive,

careful, and prepared as possible.

Managing it the best I can and finding ways to keep moving forward.

I hope this video on my mast cell is helpful, and thank you so much for joining in on my diagnosis discussion series.

(Music)