 21
of 40 say fasting triggered major episodes.
19 of 40 say viral or bacterial
infections triggered major episodes.
Other triggers for major episodes:
• dehydration
(16)
• exposure to cold temperatures (14)
• calorie restriction
(14)
• sleep
deprivation (11)
• low carbohydrate
intake (11)
• stress
(11)
• eating fatty foods
(7)
• onset of menses
(7 of 15 women)
One patient reported general
anesthesia as a trigger . |
 |
Exercise also triggered minor episodes of symptoms in 35 of
the 40 patients.
The
other most common triggers for minor episodes were fasting
(24) and sleep deprivation (24).
Other triggers for minor episodes:
• viral or bacterial infection (19)
• calorie restriction (17)
• dehydration (14)
• low carbohydrate intake (13)
• eating fatty foods (11)
• stress (11)
• exposure to cold temperatures (10)
• onset of menses (7) |
|
Males in our group reported more major episodes of muscle
breakdown than females. Males had an average of 32 major
episodes per patient. Females had an average of 25 major
episodes per patient. Eight men reported 5 or less major
episodes, but four men reported over 100. Six women reported
5 or less major episodes; only one woman reported over 100.
On
average, females in our group reported a wider range of triggers than males.
Otherwise,
there were no significant differences in triggers between
males and females.
The
male/female ratio in our group differed significantly from the
gender ratio reported in the medical literature. Our
group had 24 males and 15 females. The accepted ratio of males
to females in CPT deficiency is 5 to 1. |
|
19 patients identified exercise as their most likely
trigger. However, other patients singled out inadequate
carbohydrates or
calories (10), viral or bacterial infection (3), sleep
deprivation (3) and standing or walking on slopes (1) as their most likely
trigger.
Single
triggers and multiple triggers were both linked to an average of
26 episodes per patient. Most patients reported very few
episodes with no obvious trigger and 6
patients reported none. However, 2 patients reported many
episodes with no obvious trigger.
Patients
with a 3-10 year history of symptoms reported the highest rate
of major episodes per patient.
6 patients had symptoms
for less than 3 years. 4 of the 6 reported 5 or fewer
major episodes, but one reported over 100.
9 patients had symptoms for 3-10 years. 2 of the 8 reported 3 or fewer major episodes, and
another 2 reported over
100.
18 patients reported symptoms for over 10 years. 10 of the 18
reported 7 or fewer major episodes.
2 reported over 100 major episodes and another 5 reported 30
or more major episodes.
12 patients reported some permanent residual symptoms from major
episodes.
8 were
males and 4 were females. Triggers reported for these episodes
were exercise (9), fasting (3), sleep
deprivation (1), exposure to cold (1) and viral infection (1). |
Infection vs. exercise as
trigger
A 1995 Japanese study of 27
patients with acute myoglobinuria found two underlying
triggers: exercise and infection.
In the patients where infection was the trigger,
myoglobinuria tended to progress more rapidly and was
sometimes followed by acute renal failure.
Renal complications were not noted in the patients where
exercise was the trigger.
The researchers suggest
that the clinical differences in these two groups of
patients may indicate different underlying pathogenic
mechanisms.
All 27 patients were suspected to have a metabolic
myopathy. Enzyme defects were confirmed in 9 patients,
including 4 cases of CPT II deficiency.
An earlier study published in 1990 found similar
differences in patients with exercise-induced
myoglobinuria and infection-induced myoglobinuria.
References:
Tsurui
S et al, Clinical and biochemical analysis of 27
patients with myoglobinuria of unknown causes. Rinsho
Shinkeigaku 1995 35(1):24-8
Tein
I et al. Recurrent childhood myoglobinuria. Adv
Pediatr 1990;37:77-117
 Valproic
acid triggers acute rhabdomyolysis in a patient with
carnitine palmitoyltransferase II
Kottlors
M et al., Neuromuscul Disord 2001;11(8):757-9
 Sharon
Hesterlee, Ph.D., Director of Research for the Muscular
Dystrophy Association, has written a summary
of the paper on valproic acid in CPT II deficiency.
This new Spiral Notebook page also includes additional
lists of drugs known to trigger rhabdomyolysis (muscle
breakdown), as well as links to articles on the subject.
Check it out!
Stress
as trigger for muscle symptoms in CPT II deficiency
Emotional distress
induced rhabdomyolysis in an individual with carnitine
palmitoyl-transferase deficiency. Wallace
RA et al., Clin Exp Rheumatol, 2001
19(5):583-6 |
Thanks to all the patients who participated. To read the original
survey questions, visit the
survey form.
|
|
"Stress is the real “X”
factor. It can create major or minor episodes.”
“Most major episodes are caused by multiple
triggers—i.e. mountain climbing the Grand Canyon with less
food and water than ideal. Minor symptoms can be caused by
practically any single trigger--fatigue, viruses, hunger,
thirst,
exercise.”
“I used to think that some episodes had no
trigger, but I am finding links with menstruation.”
“Most symptoms caused by hunger or dehydration.”
“When I work on my car, my
arms start hurting, then my back down to my legs. Since I’ve
been on the L-alanine from my doctor in New York, I feel a
little better, but still have some pain after
exercise.”
“All major episodes had two triggers: not
eating enough plus exercise.”
“Whenever I have a fever I have to make sure
that I drink lots of fluid and take it easy or the muscle
breakdown may occur.”
“I had one event at age 12 or 13 and then none
until I was 18.”
“I’m sorry I can’t be more accurate with
the numbers but it is hard to keep tabs. My muscles are always
sore and every urine test shows myoglobinuria.”
“It is hard for me to estimate the number of
attacks and which triggers caused them because I had to ignore
them for so long. Eventually I just stopped paying attention
to what caused them.“
“The intensity of muscle pain for me can change
day to day/week to week. It also tends to travel to different
muscle groups during this time. I would also say I have at
least a degree of discomfort daily.”
“After some
major episodes I wasn’t able to reach the same level of
activity prior to the episode and my muscles seemed to take
less time and exertion to become sore."
“Since I have been diagnosed with
mild hyperparathyroidism (in addition to CPT), I seem to have minor muscle symptoms more
often. I recently had an attack where CK levels were elevated
to 526,000 which was caused by something which seems
relatively harmless-- Influenza A. Respiration assistance was
necessary. Renal failure resulted. Still recovering.”
"I also have cardiovascular disease and high
cholesterol. Was treated by Lipitor for 2 years, although the
doctor does not feel that is cause for muscle exhaustion and
weakness. Have been off medication for 4-6 weeks.”
Editors:
Cholesterol-lowering drugs are known triggers for a
mitochondrial myopathy that may be reversible when the drug is
discontinued. We recently heard of a similar case where
lovastatin triggered the first episode of rhabdomyolysis in a
postmenopausal Israeli woman. She was later diagnosed
with CPT II deficiency. For more about lovastatin and muscle,
see another case
history.
“I’ve had symptoms from early childhood. It’s
very difficult to estimate numbers of episodes. Often there
appears to be no obvious trigger.”
“Muscles seem to fatigue easier than before,
even on minor activity, such as just standing, or from being
in a certain position for too long.”
"Every time I try to do a few light exercises I end up
with muscle pain the rest of the day."
"Since my last episode
when I was 37 my body never went back to normal. I can no
longer do the sports that I love to do."
"Sometimes in the
middle of the day I feel muscle cramping in my legs for no
reason."
"Other triggers:
chewing gum, nervousness as in having to give a presentation,
heightened emotional days as in tragic news, and running to
catch a bus. You have hit most of them. I think I get a lot
more minor attacks than some but less major attacks. I
attribute that to the way I have been able to ( or forced
myself to) accommodate my lifestyle since high school/college.
I have minor attacks probably once every two months, one
medium attack (in bed for the better part of a day) once a
year, and a major attack once in five years." |
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