DWQA QuestionsCategory: QuestionsIs this likely CPT2?
Kim Day asked 3 years ago
Hello.   I have the following CPT2 variants from whole exome sequencing:  Ser113Leu, Val368Ile, Met 647Val.  I have the diagnoses of fibromyalgia, hypermobile Ehlers-Danlos syndrome, small fiber neuropathy, dysautonomia, mast cell activation syndrome, and common variable immune deficiency with all of their accompanying signs and symptoms.  I have dealt with symptoms since early teenage years, but have worsened as an adult, especially after surgeries.  My acylcarnitine profile was not entirely normal, but not indicative of a particular diagnosis.  My CPT2 enzyme showed normal with a citrate synthase test.  Could I still possibly have CPT2 deficiency?  My neurologist says it doesn’t explain all my problems, so she doesn’t want to look into it further.  She thinks I have some type of mitochondrial disorder that we will “have to wait for science to catch up with us” to discover.  I’m 58 years old and having a hard time waiting any longer.  Do you have thoughts or suggestions?  Thank you so much!
INFORM Physician
replied 3 years ago

Kim, Of the three variants you mention, only the first is considered to be disease causing suggesting that you are a carrier for CPT2 deficiency, but not affected. This is even more likely given a normal enzyme assay. So I would agree that your symptoms are not likely to be caused by CPT2 deficiency. You might consider a genetics evaluation, but give an otherwise, normal exam, your neurologist may indeed be correct that a specific diagnosis isn’t yet possible. We see a frustratingly high number of patients such as yourself and if all diagnostic testing is unrevealing, we can only suggest that they be treated symptomatically rather than based on a specific diagnosis. I hope this helps. Dr. Vockley