DWQA QuestionsCategory: QuestionsRecently diagnosed with VLCADD at age 66 and I have Rhabdo
Shona Pippet asked 5 years ago
Dear Sir,
I have recently been diagnosed with VLCADD after many years of searching for answers. I am 66 and have had many bouts of muscle pain and Rhabdo in the past, sometimes induced with antibiotics and other drugs and also anaesthetics.
Before diagnosis with genetic testing I had been told I had a type of Hyperkalemic Periodic Paralysis. I have myotonia of the eyelids and also the calves and feet.
I also was diagnosed with Grave’s Disease and due to RAI treatment about 30 years ago I now have no thyroid tissue left. No gall bladder due to stones and in recent years I had a hysterectomy with ovaries removed. I take thyroxine, valium for muscle spasms and Losec for stomach problems. I do wonder if I really had Grave’s Disease, although at the time of diagnosis I was 39 and suffering from osteoporosis. Many allergies to drugs! Most drugs!
Not part of VLCADD as far as I can ascertain. I do have mild aortic regurgitation, mitral valve seems within reasonable limits, with only a little bulging.
Lately no energy at all but I do suffer from anemia as well and also have one prothrombin gene mutation and one gene mutation for hemochromatosis. I have a fatty liver now as I have put on a bit of weight over the years. I have constant tight calf muscles, biopsy in quads showed only type 2 muscle fiber atrophy. Emg abnormal, neurologist can’t determine the cause. He called it pre-synaptic facilitation, not unlike Lambert Eaton Myasthenic Syndrome but not the same, tested neg to that but positive for anti-glycine receptor antibodies on three occasions. Anti-gad antibodies normal.
I honestly don’t know what is going on, some-one suggested this could be a mitochondrial problem but the diagnosis of VLCADD seems clear and I am under the care of a metabolic team now.
I wonder what your thoughts are on my symptoms. Had Rhabdo on many occasions but worst attack was after being given Fentanyl.  Decompensation after hysterectomy led to severe hyponatremia and I almost didn’t make it through the ordeal.
It all sounds crazy that my body is so fragile. I did have problems as a child and I did have an aunt who went into a coma twice, I feel due to similar issues, she and her mother both had Grave’s Disease but I feel my aunt had the VLCADD gene as well.
Any comments on this mystery would be helpful.
Kind regards,
Shona Pippet
replied 5 years ago

This is a very complicated history and very hard to sort out in a short note. Any physiologic stress including illness and surgery can lead to metabolic decompensation including rhabdomyolysis. And of course recurrent rhabdomyolysis is characteristic of VLCAD deficiency. It seems likely that most of your medical problems were stressors that made your VLCADD worse, rather than being caused by it. However, keep in mind that we do not have many patients your age and so we also don’t have a good handle of what the disease looks like in a broader sense at that age. You would benefit from seeing a metabolic physician who could see if some specific therapy for your VLCADD will help your other problems or stabilize your episodes of Rhabdo. Hope this helps. Dr. Vockley