She Was Hobbled by Fatigue Before an Accidental Diagnosis [Systemic Mastocytosis]
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Chandelier
Senior Member (Voting Rights)
The plates of nachos had just arrived at the table.
The 39-year-old woman watched as her friends dug in, but she had no appetite.
She took another sip of her margarita.
Suddenly her stomach dropped queasily.
She felt her chest and face get hot. A knife of pain shot through her gut.
The 39-year-old woman watched as her friends dug in, but she had no appetite.
She took another sip of her margarita.
Suddenly her stomach dropped queasily.
She felt her chest and face get hot. A knife of pain shot through her gut.
“I’ve got to go home,” she muttered to her friends as she struggled to her feet.
She could feel her energy drain from her body like water dumped from a bucket.
“I really don’t feel well.”
She heard her friends voice their concern but merely shook her head and made her way through the busy restaurant to her car.
She waited for the moment to pass — these episodes usually didn’t last long.
Then she pushed the start button and inched her way home.
She could feel her energy drain from her body like water dumped from a bucket.
“I really don’t feel well.”
She heard her friends voice their concern but merely shook her head and made her way through the busy restaurant to her car.
She waited for the moment to pass — these episodes usually didn’t last long.
Then she pushed the start button and inched her way home.
She had come to know these strange spells well over the previous several years.
Recently she thought they were a little more frequent and a whole lot worse.
And between them, she felt a fatigue that no amount of sleep seemed to relieve.
Her bones and joints ached all the time. She was no longer able to skate in her local roller derby or hike in the woods she loved.
She wondered if she was just getting older.
Recently she thought they were a little more frequent and a whole lot worse.
And between them, she felt a fatigue that no amount of sleep seemed to relieve.
Her bones and joints ached all the time. She was no longer able to skate in her local roller derby or hike in the woods she loved.
She wondered if she was just getting older.
The labs were normal, but the CT was not.
The radiologist reported that the woman had what he described as a diffuse haziness of the bones of her hip and pelvis, with patchy areas of a brighter white, suggestive of osteosclerosis, an abnormal thickening of the bone.
This is usually seen in patients with kidney failure supported by hemodialysis.
…
Two weeks later, the woman drove back to Houston Methodist for the biopsies.
She lay on the exam table and felt the sharp pinch of the numbing medicine go into the skin over the back of her right hip.
It did its job, but the pressure of inserting the thin, hollow needle used to get a sample from the bone and the underlying marrow just about took her breath away.
The osteosclerosis made the bone harder than normal.
The findings were suggestive of systemic mastocytosis.
The woman immediately started to read up on it.
In systemic mastocytosis, she read, an excess of mast cells, which normally drive allergic reactions and fight parasites, release high levels of chemicals that affect blood flow and trigger inflammation.
Histamine, the best known of these chemicals, causes typical allergy symptoms, including flushed, itchy skin and runny eyes and nose. We take antihistamines to treat these symptoms.
Mast cells can also trigger anaphylaxis, the most severe form of allergic reaction.
Anaphylaxis causes sudden drops in blood pressure, shortness of breath, abdominal pain and swelling of the tongue and throat. It can be deadly.
Could low blood pressure have caused her terrible weakness and fatigue?
Was this a version of anaphylaxis?
In systemic mastocytosis, she read, an excess of mast cells, which normally drive allergic reactions and fight parasites, release high levels of chemicals that affect blood flow and trigger inflammation.
Histamine, the best known of these chemicals, causes typical allergy symptoms, including flushed, itchy skin and runny eyes and nose. We take antihistamines to treat these symptoms.
Mast cells can also trigger anaphylaxis, the most severe form of allergic reaction.
Anaphylaxis causes sudden drops in blood pressure, shortness of breath, abdominal pain and swelling of the tongue and throat. It can be deadly.
Could low blood pressure have caused her terrible weakness and fatigue?
Was this a version of anaphylaxis?
The bone-marrow biopsy had already revealed the abnormal gene that triggered the proliferation of mast cells, confirming the diagnosis.
This altered gene is not inherited and can’t be passed on.
Instead, something changes the gene and turns on the cellular machinery that results in uncontrolled mast cell proliferation.
This altered gene is not inherited and can’t be passed on.
Instead, something changes the gene and turns on the cellular machinery that results in uncontrolled mast cell proliferation.
These excess mast cells invade internal organs and, from there, release the chemicals that produce the symptoms of S.M.
Like most adults with this disease, the patient had the mildest form, known as indolent systemic mastocytosis, which can usually be managed with a drug that blocks the product of that altered gene.
She now takes that drug. It reduces but does not completely stop the production of mast cells.
She finds that daily doses of antihistamines and other allergy medications help prevent the episodes of weakness, shortness of breath and abdominal pain that can bring her life to a standstill.
Like most adults with this disease, the patient had the mildest form, known as indolent systemic mastocytosis, which can usually be managed with a drug that blocks the product of that altered gene.
She now takes that drug. It reduces but does not completely stop the production of mast cells.
She finds that daily doses of antihistamines and other allergy medications help prevent the episodes of weakness, shortness of breath and abdominal pain that can bring her life to a standstill.
I spoke with the patient recently.
It has been three years since her diagnosis, and she feels pretty good.
She still doesn’t have the energy she used to have.
It has been three years since her diagnosis, and she feels pretty good.
She still doesn’t have the energy she used to have.
wingate
Senior Member (Voting Rights)
It was kind of amazing to me that being as sick as she was, this woman started the process to donate her kidney. Surely there would be some concern about what illness she might have and whether that would make her a candidate for organ donation?!
I'm glad it lead to the diagnosis though!
I'm glad it lead to the diagnosis though!
In the UK there are very few medical conditions which are excluded in organ donation.
Who can donate?
What is the age limit for becoming an organ donor? What if you have cancer, a medical condition, or if you smoke? Get the facts about eligibility here.
Peter T
Senior Member (Voting Rights)
In the UK there are very few medical conditions which are excluded in organ donation.
Who can donate?
What is the age limit for becoming an organ donor? What if you have cancer, a medical condition, or if you smoke? Get the facts about eligibility here.www.organdonation.nhs.uk
I had thought that the presumption was that here in the UK people with ME/CFS could not donate organs, though there was the option to review that in specific cases at the time. It seems I was completely wrong, and there is no restrictions other than the clinical judgement of the clinicians involved about suitability at the time of harvesting. See MEA handout on ME/CFS on blood and organ donation.
I have lived in three countries since becoming ill and only in Portugal was a hematologist interested. Dr. Margarida Lima who has since passed away. She ran the gamut of tests for mastocytosis and mast cell disorder including on bone marrow aspiration. All was normal but glad to have been able to have it done.
Jonathan Edwards
Senior Member (Voting Rights)
I don't think it would qualify as a related condition. It might be one of scores of conditions that make people feel generally debilitated and ree hard to identify without extensive investigation but it is rare and a long list of rare conditions is probably not very helpful.
Mij
Senior Member (Voting Rights)
A friend who had ME/CFS for over 40 years had what he called mastocytosis. Dr.Paul Cheney (ME/CFS specialist) investigated it since he was his patient.
Chandelier
Senior Member (Voting Rights)
Mij
Senior Member (Voting Rights)
Recover from ME? No. His symptoms were severe.
Chandelier
Senior Member (Voting Rights)
Mij
Senior Member (Voting Rights)
I'm not sure he received treatment for mastocytosis. He avoided a lot of foods. He passed away 6 years ago.