DWQA QuestionsDeveloped severe form of VLCADD in adulthood
Karen Duthie asked 4 years ago
Keith McIntire
replied 4 years ago

Hi, I am really looking for some information, because I can’t find a doctor whose even HEARD of VCLAD. And I have a rather unique problem. At 47 years old, I had my first VLCADD episode. I was found with a blood sugar of 12, in a coma from metabolic derangement, my liver numbers were over 7000, I spent a couple of weeks on the transplant list, hyperammonia, blood gasses that had “panic value” on every single value…just lots of fun and panic from everyone. Good thing I was in a coma, because I was a nurse for 20 years, and I can be SO irritating to the staff. Of course, they insisted that it was a Tylenol overdose, despite the lab disproving that theory and the fact that NO ONE in medicine overdoses on Tylenol. Thankfully, one sharp doctor got a urine test that had some metabolites that were several thousand times higher than normal, and I actually got a diagnosis. I had one episode a year for four years, with liver and kidney failure, metabolic derangement and coma, among other things. Just so, so many. And now, my QT interval has doubled to almost 500, along with every other measurement on my EKG, so I’m apparently developing the cardiac symptoms too. So here’s my question: How can I have what appears to be the infantile type? Is this a common thing? I mean, I assume not, but I can’t find a single doctor in Chicago who looks at my labs and says anything but “I don’t know what the hell I’m looking at”. And I really wish that was a joke and not a quote. The best I found was someone who would “try to find someone in Ohio to send me to”, despite her not doing it. Oh, also I have occasional rhabdomyolosis, Reynaud’s symptoms, and severe peripheral neuropathy and pain, so there are a few symptoms from the other variations, but other than that, it has every symptom of the infantile version (except sudden death, and that’s just because I came back again so it doesn’t count.) The internet says the life expectancy for that type is 4-6 years, but I’d really like to know if that’s true. And yes, I know that sudden death is a side effect of this disorder, so obviously “tomorrow” could be a good guess, but a rough estimate would be nice. I’ve asked the ICU docs, but they seem constantly surprised that I’m still alive every time they see me. So if someone knows a decent doctor within a couple hours of Chicago, and who maybe deals with rare/complicated cases, as I also have Schwannomatosis, frequent migraines, and chronic pain. And, you know, these episodes are triggered by pain, so it’s just kind of a cycle of disaster. And yes, I find the irony funny myself. Any help would be appreciated. Does anyone else have the infantile variant AND menopause? Websites, advice, or any help would be greatly appreciated!

1 Answers
INFORM Physician answered 4 years ago

Ms. Duthie, as you are experiencing, adult onset VLCAD deficiency can indeed be quite severe. It sounds like you haven\’t yet been seen by a metabolic physician who would best be able to further assess your diagnosis and treat you. While not all of your problems may be related to VLCAD deficiency, I worry that the diagnosis may be incorrect and that you might actually have LCHAD deficiency. There are metabolic physicians in Chicago, Cleveland, and Indianapolis who are familiar with these diseases. Most are based at Children\’s Hospitals but also see adults. Hope this helps. Dr. Vockley