Rhabdomyolysis Support Group
Rhabdomyolysis is the breakdown of skeletal muscle due to injury. The result of this process is renal failure due to accumulation of muscle breakdown products in the bloodstream, which are injurous to the kidney. Treatment is with intravenous fluids, and dialysis if necessary. The main therapeutic measure is hyperhydration (by administering intravenous fluids), and if...
I am a 32 year old female from austria and I had my first Rhabdo when I was about 5. Until April 2017, I always thought my Rhabdos were normal muscle pain because I was not fit enough. I never understood why people who seemed to do much less sport than me are all much more durable. On the occasions that my pee turned dark I thought it was because I was dehydtrated.
This April after a normal workout (I went to the gym 4 times a week) in the morning and 2h of dancing in the evening I spent the night in the worst pain of my life. I could not move anymore and my pee turned coffee/cola colour. I knew the symptoms since my uncle had a Rhabdo a year earlier and was in ICU for a week, so I went to hospital in the morning (by then I could walk again and the pain was "ok"). Since I said my pain was much better and my pee was clear (I had drunk about 5l of water to flush my body) the doctors didn't take me seriously until my test results came back. My CK was 56 500. They wheeled me off to a bed and didn't let me move on my own for the first day. I had to stay in hospital for a week and my CK values were monitored for about 2 weeks.
I currently live in Australia and was in the Royal Adelaide Hospital, which to my luck is a university/teaching clinic. My case, because it is quite rare got a lot of attention. After talking with the doctors I found out that the muscle pains I have had in my entire life are not normal and were always the beginning signs of Rhabdos. After I called my family to try and find out how many people in my family have/had these issues I found out that all 4 of my mothers brothers have had Rhabdos, but I guess because the doctors didn't ask about other cases in the family no real connection was ever made. After I told my doctors this they got very interested and had several students do research on genetic disorders that cause this. I neurologist at the hospital, who had written her dissertation on muscle disorders wanted to see me, and a DNA test was done.
There are several genetic disorders that make you prone to get Rhabdos more easily (f.eg. CPT2, McArdle, FKRP etc).
I was first tested for CPT2 and bingo! Carnitine palmitoyltransferase II deficiency, causes my body not to be able to metabolise fat properly after the carbs in the blood are used up and then the muscles start to break down. Aperantly only 1 in 100 000 have this disorder, but since they are rarly diagnosed it could be much more frequent.
I changed my diet to low fat and high carbs and started taking Carnitine supplements -which are available at any chemist. Since I take the Carnitine (I read some research which state 50mg per kg bodyweight per day) I have not had any Rhabdo related muscle pain. I am back to training 4-5times a week (always small workouts) before I had these pains about every 2 weeks. I am so thankful that I found this solution!
If your doctors can't help you go see a specialist/neurologist, ask them about the possibility of genetic dissorders. If you want to know anything about CPT2 and anything related to my stories feel free to message me! If you are in Australia I can give you the contact to my doctors.
PS. I am still not at the same strength level I was before my Rhabdo in April, it all takes so much time, give yourself this time and don't give up! Reading all your stories has helped me a lot -Thank you!!
This post made my day with a sliver of hope. My 8 year old son has been diagnosed with rhabdomyolisis. Ever since he was 5 he complained of muscle ache whenever he played a sport but the doctors would say either flat feet, growing pains or tight hamstrings. 3 months ago, he had cola colored urine and since then about 3 times. He had a blood CK of 95400 when we got it checked and dr called us in the middle of night and we rushed to emergency right away. His level came down to 30000 on day 1 and to 7600 on day 2 and we were discharged . He went back to school and had normal activity and we cut all his evening sports but he still has 9500 5 days later after we were discharged which is very worrisome to me. We are waiting for the genetics results to come through which might take 2 months. How come a neurologist saw you when this is related to muscles and not to nerves? Did you have muscle aches since you were 5 ? Did you have cola Urine since 5 as well of the first time you saw was apr 2017? If you have been rhabdo since 5, are your kidneys functioning normal
Having had it since that long ?
Sorry to hear about your son :(
I hope he will recover soon!
First of all to answer your questions:
I didn't know this before either, but neurologists also tend to the muscular system. I was lucky enough to find a neurologist who wrote her PHD thesis on muscular dystrophies.
Yes I have had these muscle pains all my life (my earliest really painful memory is from a skiing trip from when I was 5), I do not recall my urine color on that occasion though.
The first time I had cola colored urine was when I was 13, but I could not make a connection. I just got my period and back then thought the urine color has something to do with that. I was on a basketball tournament and couldn't move anymore from the muscle pain. My coach told me I should just take a rest.
Since then I can remember about 5 other occasions when I had very dark urine - usually after long hikes. I always thought I was just dehydrated.
I am happy to say all my kidney functions are normal.
Last year(2016) I had a really bad Rhabdo while hiking in the Australian outback. It was a long hike and even though they were flat the last 8km were horrible. It took me forever to make it back to the campground. It was the first time I was aware that I had a Rhabdo -I knew the symptoms (incl the cola urine) because my uncle had just had one a few months before. We had no phone coverage. I just drank as much water as I could and spent the next day in the tent. By the time we were back in civilization I still felt weak, but otherwise fine. So stupid me didn't go to the doctor :(
The next episode was the one in April 2017 and just at the end of Sept I had my last Rhabdo again while hiking :(
I thought I had everything under control, but I just pushed my limits too far.
I am on my special diet and I take my carnitine daily. My doctor said the carnitine will help push my workout boundaries, but will not prevent a Rhabdo if I push too far.
All my blood values are back to normal now.
My family is just getting DNA tests, so far I am the only one who is confirmed to have CPT2, but I have 4 other family members who all have the same symptoms. They have all had Rhabdos and 2 have needed Dialysis. All of them are in their late 50ies early 60ties and none have had kidney issues before and after these episodes.
I would recommend that you wait for the test results. If it is CPT2 contact me I will give you all the information I have and give you all the tips that have helped me. My doctors recommended trying carnitine, but they always distance themselves a bit as well, the study data is good but since CPT2 is so rare the amount of case studies is too small.
If it is CPT2 what would help, but will not harm if it’s not CPT2:
-no sports when any kind of infection
-avoid ibuprofen
-no fasting
- after episodes limit all exercises to a minimum, I have no warning that I am getting to my limit, suddenly I am over
nutrition recommendations (but talk to a doctor before as kids need different things while growing):
-low fat diet (if you use fat stick to short chained fatty acids such as coconut oil)
-high carb diet
CPT2 is ok to live with, trust me
If you have any other questions don’t hesitate to contact me.
I forgot to mention: My doctors said it happens quite often that the CK will spike up again after a few days. They even said that in extreme cases it can spike higher than on the first day of the Rhabdo. So what you are describing is not unusual.
I was discharged with a CK of 7000 (usually they don't discharge you until <5000), but only with "hospital at home care" which means that a nurse comes to your home everyday to check on you and take a blood sample. They will stop coming when all your values are back to more or less normal (that took 3 more days for me). If they see another spike you have to go back to hospital and recieve fluids via IV.
My values stayed down and I had a follow up blood test a week later. The Problem is that moving your muscles (even normal activity) stresses them again.
I have a similar problem and have been suffering from these symptoms for many years. My neuro diagnosed me with hyperkalemic Periodic Paralysis mainly because of my myotonic symptoms and the symptoms of both these conditions are very similar. I also suffer from Graves Disease.
He has never witnessed an attack until before Christmas last year when I ended up in ICU with extreme muscle pain and a CK level of 10,500.
This was not the worst attack I have had, In the past like you, I have been unable to move. It comes on quickly during over-exercising and not topping up with carbs. Sometimes walking down the shopping centre my legs will slow down and not want to move and move very stiffly. I know I am in trouble then.
I have learnt over the years that a low fat high carb diet works for me and because of the HKPP diagnosis, I have tried to stay away from high potassium foods as well.
My last two sessions in hospital have been bad experiences, mainly because of my current diagnosis. Which I think is incorrect.
In December they did a scan and told me my problem was appendicitis but I was sure it was due to my muscle problems as I had my usual symptoms.
Bad muscle pain with muscles in my thighs, trunk, shoulders, neck and biceps locked up so I was quite rigid.
During a really bad attack I can only manage a shuffle to get to the bathroom and back and like you mentioned, I am unable to pass urine or only very small amounts during the day. Sometimes drinking staminade and soda bicarb in water helps to get me going again, but I am playing with fire here!
I discovered that I have to sit down as soon as an attack starts and do absolutely nothing and it could take up to 3 days for it so sort itself out again.
I can only describe the pain as being like putting a hand on a hot stove and leaving it their, it is incredibly painful as every muscle burns.
I have had my blood genetically tested in Germany for HKPP by a DR Frank Lehmann-Horn at ULM university some years ago. The facility is no longer testing for this condition anymore and he has retired.
The result came back with all the sodium and potassium channel checked that no mutation was found but I could still have the disease. Which is very like Paradoxical Myotonia ( a sodium channel disorder).
However this does not fit in with Graves Disease as most people with this disease can have HYPOkalemic Periodic Paralysis, which is the opposite to Hyper PP.
During my last attack my potassium went down not up and once it goes down to 3.8 I know I am in trouble. My CK goes up my phosphate goes down and later my sodium goes down too causing hyponatremia. All my liver enzyems become dramatically elevated as well, serum lactate is usually around normal but bicarb and chloride shifts a little too. Urea goes down!
After a lot of reading lately, I read that Rabdo can also cause hypokalemia and hyponatremia on rare occasions in certain circumstances, say if I happens to have a Calcium Channel mutation, which would mean I had Hypokalemic PP. I have not had the Calcium Channels tested thus far!
I also have Glycine receptor antibodies at a low level and that was tested on three occasions at Oxford by Angela Vincents team. Each time it came back positive for these antibodies, which is indicating a stiff person type syndrome or as my neuro points out may be doing nothing at all and may only be by-stander antibodies.
At the end of the day I had my appendix removed and the CK problem is still a problem for me, if I take medications such as antibiotics etc.
He had the foresight to ask for a biopsy to be taken from my quad muscle during the operation. I don't have the result of that back yet but I did tell him that I suspected years ago that I have CPT2 enzyme deficiency but the geneticist I saw at the time said because I didn't have a family history of it then I didn't have it. No testing was done and that was about 30 years ago.
It is sounding more and more like CPT2 deficiency and now I am older I seem to be less able to maintain good muscle strength making me more prone to attacks.
My neuro said he would get the lab in Brisbane to send down a little piece of my biopsy sample down to Sydney for testing as they don't test for CPT2 or McArdles in Brisbane.
I am really hoping I get a result this time round.
It has been a long journey but after reading your story it sounds very familiar so I thank you for sharing.
Please let me know if anything in helping you and if you have trouble with anaesthetics etc. I had a huge fight with the last guy that tried to use Fentanyl on me as that drug caused a severe attack as it wore off.
I am a difficult case but I feel I am getting closer to the cause of my troubles now.
Many thanks,
Rhabdobuddy, Female! aged 65
Hi Rhabdobuddy
sorry I haven't checked this board in such a long time :(
@todds
I have tried both carnitine and acetyl l carnitine - they seem to both work for me, but I prefer the acetyl l carnitine. I buy it in pure powder form and have a precision scale to weigh it. Please talk to your doctor before you up your dosage. I am reducing my dosage at the moment, as I am unsure if it might not be too high... I could not find any studies on negative effects of carnitine usage- but you never know with long term and high dosage that's why I am cutting it down a bit. Weighing 64kg I have been taking 3,2g and am now back to around 2g. I always have capsules with me though and if I start feeling my muscles pain I take 2x500mg -I am not sure it this is really helping or if the effect for me is just a placebo.
May I ask where you are from? and where you live? There are certain areas/countries that have more CPT2 cases. How old where you when you had your first muscle issues?
Sorry about all the questions but you are the first person I have encountered with CPT2 (outside my family - we now have 5 cases including me) and I am really interested in how you cope and live with it - feel free to message me directly :)
@Rhabdobuddy
sorry to hear your story, it sounds very exhausting and frustrating. Not knowing what is wrong and how to handle it.
have they been able to diagnose something yet? If I remember correctly my blood samples were sent to Perth for genetic testing.
Just because there is no family history doesn't mean you don't have it, you have to inherit it from both your mother and father. There is no family history on my fathers side, the gene was just passed down through generations and nobody ever knew because it is not dominant.
Even though research shows problems with anesthetics, none of the 5 CPT2 cases in my family have real issues with them. I feel really groggy and get headaches, but nothing serious.
I guess everyone is still different and our bodies react different. I am pretty sure there are way more people out there with different metabolic disorders, that have just not been diagnosed, but it always helps a little to know for certain that you are not alone with your struggles.
Thank you both for sharing!