New member suspecting to have HFI, and possibly FM

[christopher]

Hello, 

I am a 28yo male from scandinavia, and I have recently begun to suspect that I have HFI. I´ve had strange health issues for quite some time, but have not been able to explain them all sufficiently before stumbeling upon HFI. I am working with my physician to sort things out, but she does not really know anything about HFI or FM. As such she wanted to do a lot of other tests before considering genetic testing (which I´ve found out that a hospital here does, and set them in contact with each other). 
Trying to keep this post not way too long, and hopefully an easy read I thought it would be a good idea to add my symptoms in bullet points. At least some of them. Please let me know if you think HFI seems likely, and if you have had symptoms like mine. Or if ou have any other comment, for that matter. Thank you kindly! 

As a child
- Could not be breastfed, so was started on formula - which made me terribly constipated and induced vomiting. Resolved when switched to a soy based formula. 
- Have always had a protruding gut 
- Have fallen asleep during dinner (also, in my dinner)
- Had so much gas that I got some pills to treat it from my aunt, after complaining about it. 

Growing up
- as a teenager started having trouble sleeping. Or, well, waking up really. Lots of tardyness. Never waking up rested. 
- never any dental problems, despite not being that great at brushing my teeth. 
- Didn´t really start eating fruit until I moved out from home, and in with my GF - after which my health declined. (GF commented on low fruit/veg intake, and thought we should eat more healthy) 
- Occasionally noticed some strange "mucous" in my stool
- Always skipped breakfast (sugary cereals) before school/work
- Tolerate fasting very well - much better than most people I know/family 
- Always been very light headed/dizzy on rising from seated to standing - vision blacking out slightly/seeing colors and having to support myself on something. (not sure about this one)
- Weird spasms/tetany - mostly in my hands, calves, quads, and feet. Like, in some positions (i.e. tightening my calves) my muscles takes over and keeps tightening even after I have stopped consciously tightening them 
- very weak hands in the morning - strength returning after a little while, but occasional weakness of hands at other times as well
- tingling sensations, especially occuring in my hands
- small involuntary muscle twitches all over from time to time
- Always been very weak (especially in shoulders and hips) - even weaker than a lot of girls in for example deadlifts, straight deadlifts, squats. 
        - but always had very good endurance, even without really working out I´ve usually been top 2 in my class when running our 3K tests

More recently (since moving from home)
- A couple of pre syncopes after large meals, with alcohol and desserts (sugary desserts, looking back). Becoming very sweaty, super pale, nauseated, and like "I was going to die". 
- Passing out one time after a large meal (I believe my GF made fruit salad as a dessert) 
- Passing sickeningly sweet/fruity smelling stools at times. 
- Colicky pains in my flanks and radiation to the groin, especially after taking bicarbonates/citrates for other reasons, which I know are able to dissolve Uric acid stones
- post prandial drowsiness very common, especially at social events (desserts being served) 
- had a acute and intense attack of gout a few weeks back after ingesting some dietary supplements containing sorbitol - also terrible flatulence

It also seems like my symptoms are worst when I consume large meals, or something sugary along with fruit, which makes me think I might have both HFI (symptoms of hypoglycemia) and FM - (I believe I respond more negatively sorbitol by itself than fructose by itself (i.e. eating a mango - lots of fructose), but have lots of symptoms when I have fruits along with sugars or carbs that break down to glucose.

[colormist]

It doesn't sound like you have HFI from your symptoms, but it would be a good idea to rule it out.

Hypoglycemia is very prevalent with HFI and we can't really fast. With HFI, your liver half-way processes the fructose, and then it gets hung up in the liver (which causes hypoglycemia). I've not heard of anyone having sweet smelling stools (urine, yes--stools, no) with HFI.

Most of us with HFI that were diagnosed later in life have lived a life of self-selective sugar-free diet. We tended to avoid eating most fruits, some vegetables, and sweets because they made us physically ill (nausea, vomiting) after a very small amount was consumed.

I know that FM is more of a digestive/intestinal issue with certain sugars, so you might be on the right path there.

A few questions:
Do you feel better if you remove all fruits, sweets, and most vegetables from you diet?
Have you tried an elimination diet already?
Are you keeping a food diary (the foods you ate and how you felt immediately after/a few hours later)?

The food diary would be very beneficial to your doctor and definitely help them pinpoint a diagnosis.

[christopher]

Hello colormist, and thank you for your reply! Can you pinpoint more precisely which of my symptoms that makes you think it is not HFI? I agree that there is something not quite right, but of all the reading I have done, becoming hypoglycemic from ingesting fructose/sorbitol/fruit points more to HFI than FM. And I definitely have experienced symptoms from ingesting noxious sugars for HFI sufferers.

Well, hypoglycemia being that prevalent in HFI does´t really make any sense to me according to my understanding of the disease. But, from what I can tell HFI accounts for several different mutations working slightly different. When it comes to those having the defective enzyme that breaks down fructose, which in turn inhibits conversion of glycogen to blood glucose and thus hypoglycemia, how would that be a problem for the sufferer when he/she has no fructose in his/her system? I mean, the symptom of hypoglycemia is dependent on ingestion of fructose. Going for long without fructose (as in fasting) would then obviously not cause that reaction, at least not by the same mechanism. Also, according to this case study, it is well tolerated: www.ncbi.nlm.nih.gov/pubmed/18035330

Most symptoms above I´ve also seen described in medical studies, and is why I´ve included them here. I might go back and attach links to studies later. 

Yes, the sweet smelling stools are what makes me think something else is at play as well.

Yes, I´ve had periods of being completely asymptomatic in the past when following a very strict "epi-paleo" diet. It is a kind of high fat low carb, no fruit very low veg, diet. In fact - I have never experienced better sleep, energy levels, normal bowel function, libido, etc. as that time. I have just started to get back onto that diet now.

No, I have not thought of keeping a food diary. That is a great idea, thank you very much for the suggestion. I will start right away.

Edit: fructose-1,6-biphosphatase (FBPase) deficiency is one of the three recognized inborn errors of fructose metabolism, which strictly speaking is a defect in gluconeogenesis - which becomes symptomatic (hypoglycemia appears) during fasting as well as after ingestion of the noxious sugars. This is not the one I suspect that I have. But, if you have trouble with fasting as well, this might be you, Colormist? (http://eknygos.lsmuni.lt/springer/223/II%20Part/135-142.pdf)

[colormist]

The intestinal issues/stool are curious. I've never read nor experienced problems like those. It could possibly be FM (and I'm not ruling out HFI, but most of your list doesn't sound like HFI.

I did actually fast recently. I'm okay with fasting so long as I don't drink anything. Or at least I thought I was okay. While I was making dinner (I wasn't hungry, but I thought I should eat), I grabbed a pan fresh out of the oven with my bare hand and not 10 seconds after that scare, put my bare hand on a stove burner that I had just turned off. Both were very warm, but (thankfully) didn't burn me. I talked to my doctor about what had happened to me and she said it sounded like I was hypoglycemic. I didn't have the shakes or sweats, but my brain was clearly not functioning properly.

There are a couple people with FBPase deficiency in this group. I am hoping they can reply. I'm not sure that condition has a later-in-years diagnosis, though. I do have HFI (formal genetic diagnosis). Even my symptoms prior to diagnosis are not similar to what you've described.

If you can get a genetic screening for HFI, it's probably a good idea to rule that one out first. There is a test that has been popular in recent years called the "fructose challenge" which can be extremely dangerous to people with HFI. I think they're only just now realizing that it is dangerous to HFI and they're starting to not recommend that test as a first step. The fructose challenge involves drinking a very sugary substance and they monitor your results (which makes me nauseated just thinking about it).

As for the fasting still causing hypoglycemia. I've been through a few recent liver function tests (as a result of having fructose causing complications with a malfunctioning gallbladder) and even a few days after eating a small amount of fructose (two pieces of purported fructose-free candies that are the sizes of peas), my liver was still trying to overcome the effects of those candies. The candies were made with dextrose, but had natural flavors. It couldn't have been more than 1gram of total fruit juice and still three days later my liver levels were very elevated. My doctor kept checking me for jaundice. I felt fine so long as I ate every four-to-five hours, but my liver test results said otherwise.

In the US, it's really difficult to find food that doesn't have sugar in it. Even the safe sugars seem to be contaminated. That being said it's near impossible to maintain a fructose-free diet for a period of time that would result in liver free of fructose--which is why I suspect I tend to get hypoglycemic if I try to go too long without eating. It sounds like it might be easier to maintain a fructose-free diet in other countries (that aren't so over-zealous with adding sugar to everything), so if you do have HFI and you are able to maintain a fructose-free diet, then that might explain why you have a different experience.

I hope this helped and hasn't completely confused you.

[christopher]

Thank you so much for your input. Having read up a bit more on fructose-1,6-biphosphatase deficiency I now feel that it might actually be a better fit considering some of my symptoms. My mistake.

Most importantly in regards to the sweet smelling stools after eating pure fructose (but not going hypoglycemic due to the ingestion). It would make a lot of sense because fructose-1,6-biphosphatase is needed for absorption of fructose in the intestines - a deficiency of the enzyme would then logically cause fructose to remain unabsorbed and thus get passed out in the stool - causing the mentioned smell.

I might also have to consider that me feeling that I am good at fasting might not be entirely true, but something I say to satisfy my ego. If I were to count the hours fasting before bedtime (after the last meal and snacking) along with hours slept, that makes up quite a few hours of fasting which could explain why I´ve always had such trouble waking up and getting started in the morning - due to this deficiency the body cannot make glucose, so the accumulated hours of fasting before and in bed might actually be making me hypoglycemic. It sure does correlate with everyone who´s tried to wake me, describing me as more in a comatose state rather than "sleeping" - haha.

From the paper I cited (http://eknygos.lsmuni.lt/springer/223/II%20Part/135-142.pdf) apparently those with this deficiency can take larger amounts of fructose and still thrive. That would explain how I am not as super sensitive to fructose as you guys seem to be, and also how my post prandial symptoms of hypoglycemia usually occurs after larger intakes of noxious sugars (ingesting sucrose for example I believe would "improve" absorption of fructose due to it containing glucose as well. It would also explain why I have such bad reactions to sorbitol (presumably it does not need the same enyzme as fructose in order to be absorbed in the intestines).

[colormist]

From what you've described (I don't know much about FBPase) it sounds like it fits your symptoms. I know the conditions are similar, but the metabolisms are different.

I thought for sure I came across a video on youtube about this condition that explained it in further detail, but I can't seem to find it now.

Definitely share with your doctor everything you've shared here and be sure to share the results of your food diary (maybe even keep track of your sleeping, energy, and anything notable in stool/urine).

If you do discover your diagnosis with your doctor, we'd love to hear back from you (or even how you are doing on your diet)! There are a few people on this forum with this deficiency, so I'm still hoping they'll chime in (not everybody checks for forum as obsessively as I do!)

[christopher]

If you happen to come across the youtube video, or get in touch with any of the other board members that have FBPase, please let me know. Thank you!

I will definitely share, both with my doc and with this board when my appointment comes up and my results come through.

[lucky]

Christopher,

Just as a side note, we were told that sorbitol can heighten a fructose reaction by 7x.

[christopher]

lucky, wow really? Any idea as to how that works?

Do you happen to have a source for that information? I´ve read a lot now, and can't say I´ve seen anything about that yet.

On related note, since starting to read about FBPase I have realized there are other symptoms of mine that fit as well. Including some degree of hypotonia, ketonemia and ketonuria during and after episodes, and that it in some cases cause acidosis may explain some other symptoms of mine, like signs of latent tetany (tetanic cramps) and hyperventilation.

My doctor recently agreed to do the genetic tests as well, which are on their way, but will probably take a while in any case. Still - fingers are crossed!

[lucky]

Christopher,

Sorry, no. We learned of this through our Gastro team, I think. It was during a time following a FM diagnosis, but before having DNA tests done for HFI and FBPase deficiency. I think it is related to health maintaince for those with FM.

We were essentially told that sorbitol is a sugar alcohol (if I have that right) and as such can break down to forming fructose. And, can make you 7x more sensitive to fructose that is consumed. So, those with FM should take care for this especially along with most " 'ol " ending sweeteners.

We no sooner learned about FM (Fructose Malabsorption) issues before we quickly progressed to HFI, FBPase deficiency testing +++. When that happened, we quickly converted to strict HFI diet requirements and as such, NO sorbitol etc...

I never felt the need to further research it. But perhaps a Google search with reference to FM might help.

All I know is that my son's health has drastically improved over the years, and he is able to consume many new foods that originally were not possible. But sorbitol is a no go. It gives him problems every time so we avoid it 100%.


*My son is not HFI, but is still suspicious for FBPase deficiency.

[angieb]

Hi All,

Fabulous resource here! I had never even heard of HFI until a week ago. I decided this year to find out once and for all if I was Fructose Intolerant or just fussy and then found my way here.

Some background:

I'm from Australia and suspect I have FM but going to try ruling out HFI first. Having some trouble here though as Dr was happy enough to order the test but no lab here does the testing as far as I have investigated so far.

I'm booked in to do a Fructose Tolerance test in 3-4 weeks but the thought of how that's going to make me feel horrifies me and I'd prefer to get the DNA test if I can.

Some history:

Refused boob at birth, was tried on multiple formulas until one stuck (Mum doesn't recall what was dif about it)

When they tried to get me on solids I spat out all fruit and many vegies. I also got welts on my tongue from contact (like geographic tongue which I have to do this day - they come and go and change though)

Parents just figured I was a "fussy eater" and given that my brothers were not and I was the third, they were not too bothered about indulging it and I had such an aversion to it they just figured I "knew best"

I was not averse to sweets as a whole though although always got headaches or nausea or hypo from them.... still very interested in some of them. Which makes me think FM rather that HFI.

As I got into my late teens I was more and more averse to sweets where to this day I self-select out 99% sweet stuff and have done since about age 18. I follow a mostly very low carb diet and at times have done zero carb (all meat). If I do eat something sweet it is normally followed by a big but unsatisfying sleep and huge thirst.

Much of what I read here rings true for me except I love Avocado's, can tolerate small amounts of banana (but literally will have a slice of banana bread maybe once per year), can do tiny tiny amount of tomato from time to time but I don't love it I've just learned to tolerate it if it's in something. I'm fine with lemons and limes but also not sure if I've just forced that over the years in the name of "health".

Anyway that's all for now. Really just wanted to check if any Aussies know where I can get HFI DNA test done here? Or overseas without taking out a mortgage!

Would 23andMe give me the results I need?

Oh and it's nice to see so many people like me here! I've literally been treated like a bit of an oddity over the years and never met anyone else that self-selcted fruit out of their diet since weaning.

Kind regards,

Angieb

[colormist]

Oh man, I love avocados. They are delicious, but they do have enough fructose to cause a reaction. Before I realized this, I went and incorporated them into my diet a lot (avocados in everything!) and promptly got sick. I did the same thing with asparagus. The asparagus soup I made actually cause a violent reaction and I haven't has asparagus since.

23 & Me might give you the results, but they only test for a few markers (from what I've heard). A few people have had luck with the test on here, so it just depends on what genetics you have. I definitely wouldn't use it as a be-all/end-all deciding factor as to whether or not you have HFI, though.