Mastocytosis

I found out recently that I have a rare condition called masocytosis which affects less than 200,000 people in the US. I had some reddish dots on my thigh and when I went for my check- up at the dermatologist in August she did a biopsy of one of the lesions. It came back and it was called urticaria pigmentosa. This condition means that there are mast cells in the skin.

I asked whether the mast cells could be in any other organs and she said yes and to look it up on the Internet. When I did I found out that this condition could cause fainting. As I read more about the condition I realized that all the symptoms I have experienced over the last 2 years fit. The triggers for my attacks-heat, stress, exercise. What happens is there is an excess of mast cells in the blood which granulate and bring on my fatigue, anxious feelings and fainting.

I went to an allergist who took a blood test to look for excess tryptase in my blood and It came back very high-36. This confirmed the diagnosis of mastocytosis. (Hey that rhymed)

I hope this will help some of you out there who still are looking for answers regarding your fainting spells.

Beth

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Urticaria pigmentosa

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Urticaria pigmentosa Classification and external resources
Irritation to the skin causes the mast cells to release histamine, resulting in the hives seen here.
ICD-10	Q82.2
ICD-9	757.33
DiseasesDB	7864
MeSH	D014582

Urticaria pigmentosa (also known as "Generalized eruption of cutaneous mastocytosis (childhood type)"^[1]:616 ) is the most common form of cutaneous mastocytosis. It is a rare disease caused by excessive numbers of mast cells in the skin that produce hives or lesions on the skin when irritated.

Contents [hide] 1 Cause 2 Prevalence 3 Diagnosis 4 Symptoms 5 Irritants 6 Treatments 7 See also 8 References 9 External links

[edit] Cause

The majority of urticaria pigmentosa cases are caused by a point mutation at amino acid 816 of the proto-oncogene c-kit^[2]. c-kit is a transmembrane protein which, when bound to Mast Cell Growth Factor (MCGF), signals the cell to divide. Mutations in position 816 of c-kit can result in a constant division signal being sent to the mast cells, resulting in abnormal proliferation. Different mutations have been linked to different onset times of the disease. For example, the Asp816Phe and Asp816Val mutations (the aspartate normally at position 816 in the c-kit protein has been replaced with phenylalanine or valine respectively) have been associated with early manifestation of the disease (mean age of onset: 1.3 and 5.9 months respectively). ^[3][4]

[edit] Prevalence

Urticaria pigmentosa is an orphan disease, affecting fewer than 200000 people in the United States.

[edit] Diagnosis

The disease is most often diagnosed as an infant, when parents take their baby in for what appears to be bug bites. The bug bites are actually the clumps of mast cells. Doctors can confirm the presence of mast cells by rubbing the baby's skin. If hives appear, it most likely signifies the presence of urticaria pigmentosa.

[edit] Symptoms

Urticaria Pigmentosa is characterized by excessive amounts of mast cells in the skin. Red or brown spots are often seen on the skin, typically around the chest and forehead. These mast cells, when irritated (e.g. by rubbing the skin, heat exposure), produce too much histamine, triggering an allergic reaction that leads to hives localized to the area of irritation, sometimes referred to as Darier's sign. Severe itching usually follows, and scratching the area only serves to further symptoms. Symptoms can range from very mild (flushing, hives, no treatment needed) to life-threatening (vascular collapse).

[edit] Irritants

The following can worsen the symptoms of urticaria pigmentosa:

1. Emotional stress
2. Physical stimuli such as heat, friction, and excessive exercise
3. Bacterial toxins
4. Venom
5. Eye drops containing dextran
6. NSAIDs
7. Alcohol
8. Morphine

The classification of NSAIDs can be disputed. Aspirin, for example, causes the mast cells to degranulate, releasing histamines and causing symptoms to flare. However, daily intake of 81 mg aspirin may keep the mast cells degranulated. Thus, while symptoms may be worsened at first, they can get better as the mast cells are unable to recover.

[edit] Treatments

There are no permanent cures for urticaria pigmentosa. However, treatments are possible. Most treatments for mastocytosis can be used to treat urticaria pigmentosa. Many common anti-allergy medications are useful because they reduce the mast cell's ability to react to histamine.[1]

At least one clinical study suggested that nifedipine, a calcium channel blocker used to treat high blood pressure, may reduce mast cell degranulation in patients with urticaria pigmentosa. A 1984 study by Fairly et al. included a patient with symptomatic urticaria pigmentosa who responded to nifedipine at dose of 10 mg po tid.^[5] However, nifedipine has never been approved by the FDA for treatment of urticaria pigmentosa.

[edit] See also

• Mastocytosis
• Mast Cells
• Urticaria
• Dermatographic urticaria

[edit] References

1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
2. ^ Akin C (2006). "Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology". J Mol Diagn 8 (4): 412–9. doi:10.2353/jmoldx.2006.060022. PMID 16931579. PMC: 1867614. http://jmd.amjpathol.org/cgi/reprint/8/4/412.
3. ^ Yanagihori H, Oyama N, Nakamura K, Kaneko F (2005). "c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation". J Mol Diagn 7 (2): 252–7. PMID 15858149. PMC: 1867517. http://jmd.amjpathol.org/cgi/pmidlookup?view=long&pmid=15858149.
4. ^ Sotlar K, Escribano L, Landt O, et al. (2003). "One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes". Am. J. Pathol. 162 (3): 737–46. PMID 12598308. PMC: 1868096. http://ajp.amjpathol.org/cgi/pmidlookup?view=long&pmid=12598308.
5. ^ Fairley JA, Pentland AP, Voorhees JJ (1984). "Urticaria pigmentosa responsive to nifedipine". J. Am. Acad. Dermatol. 11 (4 Pt 2): 740–3. doi:10.1016/S0190-9622(84)70233-7. PMID 6491000.

[edit] External links

• DermAtlas 27
• BC Health Guide
• About.com with Pictures
• Prevalence of Urticaria Pigmentosa
• AAFP
• The Skin Site

[hide] v • d • e Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3) Skin disease/ genodermatosis Congenital ichthyosis AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Ichthyosis lamellaris (Harlequin type ichthyosis) Netherton syndrome · Zunich-Kaye syndrome · Sjögren-Larsson syndrome XR X-linked ichthyosis Epidermolysis bullosa Epidermolysis bullosa simplex · Junctional epidermolysis bullosa · Epidermolysis bullosa dystrophica Pigmentation disorder Incontinentia pigmenti · Urticaria pigmentosa · Lelis syndrome DNA repair-deficiency disorder Bloom syndrome · Rothmund-Thomson syndrome · Xeroderma pigmentosum Ectodermal dysplasia Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay-Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis-van Creveld syndrome Hyperkeratosis/keratinopathy Meleda disease · Keratosis pilaris · Darier's disease · Dyskeratosis congenita · Lelis syndrome Other Familial cutaneous papillomatosis · Kindler syndrome · Port-wine stain (Nevus flammeus nuchae) · cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis) · Hailey Hailey · Birthmark Elastic fiber/Connective tissue Cutis laxa (Gerodermia osteodysplastica) · Pseudoxanthoma elasticum see also non-congenital, neoplasia

Retrieved from "http://en.wikipedia.org/wiki/Urticaria_pigmentosa"

Categories: Congenital disorders | Rare diseases | Dermal and subcutaneous growths

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Urticaria Pigmentosa

Hi,

This is another rare disease that usually manifests itself on the skin as small red or brown marks or hives. In some cases it can lower blood pressure and cause fainting or syncope. I will post an article about it from wikapedia.

Beth

Research

Good Morning,

I just wanted you to know that every time I read or hear anything of interest on fainting I post it. I hope this helps people with this condition. Too many people are told by their doctors that it is all in their heads.

If you've read my last post on swallow syncope you'll realize how many people have different triggers to fainting episodes.

Beth

Swallow Syncope

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Blimey! Why the sandwich made Briton swoon

Posted on Wednesday, January 14, 2009 5:37 PM PT

By Jasmin Aline Persch

You may think some sandwiches are scary – a Wendy’s Baconator, anyone? — but for one young British woman, eating a sandwich really was a dangerous act.

The otherwise healthy 25-year-old from Birmingham, England, regularly fainted while eating sandwiches or drinking fizzy sodas. Once while having a bit of grub behind the wheel, the young woman blacked out at a red light. Fortunately, she came to before the signal switched to green.

Having experienced the condition since she was 15, she realized a connection between certain foods and the fainting spells.

When she sought medical help, doctors didn’t recognize the curious symptoms. She was hospitalized several times and her blood, thyroid and pituitary glands were extensively tested, but everything was normal. She didn't smoke, drank only a little and didn't use drugs. Doctors suspected the problem was all in her head. They didn't realize that the glitch was in her heart.

“Because she’s young, everybody thought, ‘It can’t be her heart,’ ” said Dr. Howard Marshall, a cardiologist at University Hospital Birmingham who detailed her case with Dr. Christopher Boos in a recent article, dubbed “Dangerous sandwiches,” in the British medical journal The Lancet.

The University Hospital Birmingham doctors discovered that when she became light-headed, she was suffering a complete atrioventricular block, a delay in the electrical signals between the upper and lower chambers of the heart. It caused the pauses between her heart beats to last up to 2.5 seconds, Marshall said.

The doctors discovered the young woman suffers from a rare disease called “swallow syncope,” a condition that causes the patient to lose consciousness when too little blood flows to the brain. Only about six cases have ever been reported, said Marshall, who has seen one other case besides this one. Swallow syncope was first recognized about 50 years ago, yet remains fairly mysterious due to its rareness, Marshall said.

Other cases have been linked to gastric disorders or problems with the esophagus. For this young woman an anatomical anomaly had caused the nerve systems in her throat and heart to intertwine in her brain stem. When she would take a big bite of a sandwich, a bolus -- or ball -- formed in the back of her throat. The “cross reaction” between her throat and heart in her brain that caused her heart to halt briefly starved her brain of blood long enough for her to pass out, Marshall explains.

During the medical exam to confirm the diagnosis, doctors had her eat various foods to find the link. One of the culprits? A ham sandwich, which the young woman had brought in herself.

Cold fizzy drinks and solid foods are the most common triggers, but there are others.

• In 2005, a German medical journal described a 38-year-old man who fainted while drinking hot coffee.
• In 2006, Japanese doctors detailed a 66-year-old woman whose heart stopped while she swallowed soup or sipped tea.
• In 2007, an American doctor wrote about a 68-year-old woman who fainted while standing at the sink, gulping a glass of milk.

Swallow syncope has been described as a “potentially lethal disease,” but Marshall said that the young woman would not likely have died from the condition. “She had enough phyical warning to spit out the sandwich and stop herself from falling over,” he told msnbc.com.

Marshall, who helped confirm her illness, said the young woman’s diagnosis brought not only physical, but emotional relief. She had endured years of fruitless medical examinations and meetings with psychiatrists after doctors questioned whether the symptoms stemmed from her imagination.

“I knew it wasn’t in my head. I knew it was real,” was her response to the diagnosis, Marshall recalled.

Rather than giving up ham sandwiches or soda for life, the young woman had a permanent pacemaker implanted to regulate her arrhythmia.

Because the condition had led her to eat very sparingly, the 5-foot-4-inch woman weighed only 102 pounds before the pacemaker was implanted last February. Now free of fainting spells, she’s no longer limiting her portions, or sandwiches. As a result, she' packed on a few pounds.

“You didn’t tell me I would put on half a stone in weight,” Marshall recalled her saying, using the British phrase “stone,” meaning 14 pounds.

Comments

I have that problem when I drink Soda pop. I cann't swallow and I have been know to pass out and or have a seizure.

Linda Helmink, Cleveland, Ohio (Thursday, January 15, 2009 1:44 PM)

How long before this is an episode on House?

Erica, New York, NY (Thursday, January 15, 2009 1:49 PM)

"stone" isn't a British phrase, it's the most used form of measurement here. I only know my weight in pounds because of American websites.

Leamington Spa (Thursday, January 15, 2009 1:55 PM)

i have episodes of tachycardia, usually brought on by being overheated and have found that sometimes a thick, cold drink (like a milkshake) will "shock" my heart back into a normal rhythm. My mom has issues with rapid heartbeat as well, however, she has the exact opposite experience. Milkshakes have caused her to have tachycardia, while hot drinks seem to help her normal rhythm return. Weird.

Babs, FL (Thursday, January 15, 2009 2:23 PM)

I can remember a girl in junior high school would faint for no particular reason. She had a great mother so I'm sure she had been examined - this remined me of the girl in homeroom.

Marcia Gerber, Moline, IL (Thursday, January 15, 2009 3:34 PM)

This happened to me once eating mexican food and washing it down with a big swallow of beer. I was in a restaurant and passed out for about 10 seconds before coming to. I fell out of my chair and people were huddled over me. I was fine afterward.

My question is, do I have the disease "swalow syncope"? or was it just a one time thing?

Kenneth Rosen, Los Angeles, CA (Thursday, January 15, 2009 4:24 PM)

wow ive never heard of that b4

not gonna tell u (Thursday, January 15, 2009 9:30 PM)

cardiac work up including holer monitoring is part of sycopy....most of trained physician will do that.

kiran chauhan.MD.Longmeadow, MA (Thursday, January 15, 2009 9:39 PM)

I had a case of micturition syncope, which would be worse if it happened frequently. Its when you faint when you pee. Had it happen once in my life. The doctor knew what it was and I am very careful now, lol.

Nothing like people standing over you in the restroom saying "You okay?" as you're waking up, lol.

Anonymous (Thursday, January 15, 2009 11:14 PM)

As an RN for 21 years mainly in ERs i have never seen a patient with this syndrome. However , the elderly and people with heart disease have been known to pass out or even die in the bathroom from stimulating the same nerve.

Gary king yreka, calif (Friday, January 16, 2009 7:09 AM)

There are probably many people with this disorder who simply stopped the particular food consumption behavior after a couple of bouts of fainting. It may not be as rare as believed.

David Fishken, Chelmsford MA (Friday, January 16, 2009 10:37 AM)

Endoscopy

Hi,

I had a new medical procedure done this week. I have always had trouble with heartburn and the doctor wanted to perform an endoscopy but I was always too afraid. Who wants a tube the size of a garden hose going down your throat. I even have problems swallowing a vitamin pill.

First of all they put you to sleep during the procedure and secondly the scope going down your throat is the new and slim model. It takes about an hour from the time you arrive until you leave and there was no sore throat afterwards. The only post procedural side affect was a little bloating of my stomach and I was sleepy the rest of the day. You must bring someone with you to take you home.

The doctor said I had a moderate amount of erosion of my lower esophagus and a hiatal hernia. He took some cold biopsies and I should have the results by next week. The whole point of getting a endoscopy is to determine if you have esophageal cancer or have indications that you might get cancer in the future and try to prevent it.

I am now taking a drug to prevent acid from forming in my stomach and am supposed to change my diet- no citrus fruits, chocolate, caffeine, spicy foods. Also I am supposed to eat smaller more frequent meals. This is supposed to stop reflux of food into my esophagus (GERD).

I will post results of the biopsy next week. Wish me luck.

Beth