Diagnosed in adulthood

[sonja]

Hi everyone

I’m 28 and this week my HFI-diagnosis was confirmed via genetic testing at the University Hospital Zurich. Although I have been suspecting that I might have HFI for about a year now, I’m still amazed by the fact, that such a rare condition is responsible for my whole eating habit I thought to be based solely on my preferences.


I found out, when I saw a nutritionist regarding the prevention of osteoporosis (because it runs in my family), and she suggested that I might have fructose malabsorption – since I don’t eat any sweets/ fruits and very few veggies by choice. She said if I wanted to find out, I could try drinking a glass of apple juice and watch my reaction. Of course, the drinking was a torture and about an hour later I got quite sick, a sickness that I’ve had in the past when I was invited and ate food I didn’t actually like. So, I googled a bit and came across HFI. Since then, it took a year to get the genetic confirmation and on the way I met a gastroenterologist who claimed that I couldn’t have this dis-ease because it gets diagnosed in childhood and I wouldn’t be able to tolerate even slightest amounts of sugar in bread etc.


Anyway, I’m happy that I know now, so I no longer feel bad about eating “unhealthy”. My blood values look fine and next week I’ll have an ultrasound of my liver.


Are there others that have only found out in adulthood that they have HFI? Did you change a lot of your diet when you found out? My doctor said, I wouldn’t have to change anything, since I’m al-ready eating so little fructose and I seem to have a rather high tolerance. But starting to read labels I discovered that I eat a couple of things with a small amount of sugar or sorbitol in it (e.g. also stuff like toothpaste, mouthwash).


I’m very happy that I’ve found this board, it’s great to know that there are others out there with similar experiences and also, it’s a great source of information!

[colormist]

I found out in my mid-20s. My coworkers were befuddled by me eating pixy stix (dextrose candy) like crazy, but getting sick if I ate fruits, cakes or other sweets. I did my online research, found my diagnosis, asked my doctor for testing. My doctor referred me to a geneticist for testing and he said I would have died as a baby if I had HFI. He still humored me with a test and was quite apologetic and humbled when the results were positive.

I did change a lot of my diet. Before diagnosis, I did try to eat non-sweet tasting vegetables and the occasional berry. I would also eat all manner of foods that had smaller amounts of sugar (soups, breads, occasional ice cream). After diagnosis, I went on a strict diet and began to feel much better. Nowadays, I can definitely tell when some sugars have snuck past my usual safeguards (ingredients, smell, taste).

I have found safe toothpaste and safe mouthwash, so they do exist, they're just hard to find. You could use sorbitol toothpaste and mouthwash in a pinch so long as you make sure to rinse your mouth out thoroughly.

Have you had your liver function panel run recently? I look and (externally) seem fine after eating unsafe foods, but my liver panel says WAY otherwise. My doctor was very confused by my liver labs. She thought I should be jaundice by my liver results, but I looked and acted perfectly fine.

[haz]

I am also 28 and found out about 6 months ago after a genetic test. I avoided sweet things my whole life and cook my own food because of it, and my liver tests have always been fine. Since the diagnosis I try harder not to let any added sugars or sweet vegetables slip through the net, though sometimes they do. Alcohol is a problem, I was unaware that (at least in the US) many spirits, wines, beers have a lot of sugar added post fermentation- despite them being straight gin or vodka, and some bars are lying about the brand they are pouring you. Europe generally has better regulations when it comes to how their alcohol is produced.

Overall I felt very relieved to have finally found out what had caused all the hypoglycemia, fainting and sickness throughout my life and happy not to feel obliged to eat/ drink sweet things when offered to me anymore

[sonja]

Hey, thanks for your replies, nice to hear from you!

Colormist, here we don't have pixy stix but I also found out in my childhood that I quite like a candy called DextroEnergy. This made me question my food preferences since I had always thought it was the sweet taste I disliked. But now it all makes sense!
I'm also trying to change my diet. Especially I'm trying to buy less convenience products because almost all of them have a small amount of sugar in them. Also, I'm trying to be a more inconvenient guest when being invited by telling my hosts beforehand what I can and can't eat. But I still find this quite uncomfortable because it must be quite difficult for people to think of nice recipies, especially when they are vegetarians…
I think I have found a safe toothpaste, although there is sodium saccharid in it. But somebody with HFI has told me that this is fine.

That's crazy about your liver values. Are they always that bad? Or only if you run a test after some food accidents? My liver values (blood tests) look fine but to be sure I was able to have an ultrasound of my liver just before the whole corona-crisis started. The doctor told me that my liver looks very good. They also did a fibroscan which shows how stiff the liver ist (the stiffer the worse) and this looked fine, too. So I'm very glad that my not knowing of HFI doesn't seem to have affected my liver. Have you had these Kinds of examinations also?

Haz, did a doctor suspect that you have HFI or did you come up with the idea? I think when there are no big complications in childhood, doctors don't think of HFI anymore and the people have to find out themselves.
Here in Switzerland I have been able to drink beer and pure alcohol like tequila or vodka. When I drank other alcohol and got sick, I always thought it was because I drank to much… I have also been able to drink wine, but I generally seem to have a rather high fructose-tolerance - so I think, this isn't possible for all HFI-people. But in the last years I haven't been drinking much - surely the best thing for my liver .

[colormist]

I'm also a horrible house guest. I tend to bring my own food and completely refuse food cooked by the host.

My liver values are not always that bad. It was just because I had consumed unsafe food (funyuns) the day before the test. My levels were back to normal-range within a week.

I've not had a fibroscan, nor an ultrasound of my liver, but then I'm in the US where they will not do nor approve of a random test without some legitimate reason for the test. So long as I feel fine and I look healthy, the insurance agency would never approve the test.

[haz]

The way I found out was very unexpected- I did one of those genetic ancestry tests which revealed the mutant alle, I had never heard of HFI before (despite all my googling of symptoms). After contacting an HFI specialist they confirmed the diagnosis. I have not had any liver imaging tests done, however if ALT/AST, bilirubin and other liver function tests are normal it is unlikely that the liver would be damaged (I happen to be a liver pathologist/ toxicologist which all seems very ironic). My older sister has the same symptoms, though hasn't been formally diagnosed. When we were babies my mother asked the doctor why we would not drink fruit juice or eat fruit once we started weaning but they just put it down to us being fussy- clearly the diagnosis for this disorder is very poor and still not very well understood.

[christi]

Feb 28, 2020 7:06:08 GMT -5 sonja said:

Hi everyone

I’m 28 and this week my HFI-diagnosis was confirmed via genetic testing at the University Hospital Zurich. Although I have been suspecting that I might have HFI for about a year now, I’m still amazed by the fact, that such a rare condition is responsible for my whole eating habit I thought to be based solely on my preferences.


I found out, when I saw a nutritionist regarding the prevention of osteoporosis (because it runs in my family), and she suggested that I might have fructose malabsorption – since I don’t eat any sweets/ fruits and very few veggies by choice. She said if I wanted to find out, I could try drinking a glass of apple juice and watch my reaction. Of course, the drinking was a torture and about an hour later I got quite sick, a sickness that I’ve had in the past when I was invited and ate food I didn’t actually like. So, I googled a bit and came across HFI. Since then, it took a year to get the genetic confirmation and on the way I met a gastroenterologist who claimed that I couldn’t have this dis-ease because it gets diagnosed in childhood and I wouldn’t be able to tolerate even slightest amounts of sugar in bread etc.


Anyway, I’m happy that I know now, so I no longer feel bad about eating “unhealthy”. My blood values look fine and next week I’ll have an ultrasound of my liver.


Are there others that have only found out in adulthood that they have HFI? Did you change a lot of your diet when you found out? My doctor said, I wouldn’t have to change anything, since I’m al-ready eating so little fructose and I seem to have a rather high tolerance. But starting to read labels I discovered that I eat a couple of things with a small amount of sugar or sorbitol in it (e.g. also stuff like toothpaste, mouthwash).


I’m very happy that I’ve found this board, it’s great to know that there are others out there with similar experiences and also, it’s a great source of information!

Hi Sonja

I would love to talk to you. Please contact me on facebook if you like
Im Christina Diamandis Demetriade

[christi]

Mar 20, 2020 11:45:55 GMT -5 haz said:

The way I found out was very unexpected- I did one of those genetic ancestry tests which revealed the mutant alle, I had never heard of HFI before (despite all my googling of symptoms). After contacting an HFI specialist they confirmed the diagnosis. I have not had any liver imaging tests done, however if ALT/AST, bilirubin and other liver function tests are normal it is unlikely that the liver would be damaged (I happen to be a liver pathologist/ toxicologist which all seems very ironic). My older sister has the same symptoms, though hasn't been formally diagnosed. When we were babies my mother asked the doctor why we would not drink fruit juice or eat fruit once we started weaning but they just put it down to us being fussy- clearly the diagnosis for this disorder is very poor and still not very well understood.

I would love to speak to you Haz.im on facebook Christina Diamandis Demetriade

[ukbill]

Hi to both Sonja and Haz (I already know Christi )
Our livers are amazing organs and very able to heal from terrible injury.

I was diagnosed at around 25 years old (My in-laws refused to believe I had anything wrong) but never have I had any sensible food advice from any of the multitude of dietitians I have met in my 64 years!

Recently I have been in contact with Professor T Cox of Addenbrooks hospital Cambridge UK who discovered the 1st gene for HFI.

His insights into the condition have taught me so much and I am keen to pass this on.

My liver is enlarged due to damage done before I tidied up my diet, however it has no fatty deposits but if I was given a liver biopsy it would appear to be fibrous in large areas.

When you get an ultra scan the reporter who looks at the scan might well say the liver is fatty all over, this is because our livers hold more Glycogen than normal people in general. This makes the scan image very "sparkly" and appear that the liver is mostly fat. This is not or should not be the case.

So do not be alarmed if your scan comes back "abnormal"

Storing a little more Glycogen than normal has its benefits apparently. if we get into a serious starvation situation, even though our blood sugar will drop down to a low level, it will remain in that relatively safe level for longer than normal people.

However few people these days will ever get that hungry but as from an evolution point of view gives us an advantage.

We also are very rarely going to have health issues due to our diet.

This sounds counter intuitive but eating a largely meat based diet and one that is totally absent in refined sugars and vegetable fats (as in cakes and cookies which are full of refined white flour, sugar and palm oil fat) and of course totally avoiding High Fructose Corn Syrup which is a major cause of obesity diabetes, none alcoholic fatty liver and heart issues.

So actually our diet is really good!

I know you will hear constantly about 5 a day fruit and vegetables.. but the reason for that health message is because they (fruit and vegetables) slow down the digestion and so reduce the tendency for people to snack on said cakes and cookies. Vegetables are mostly 95+% water and most of the goodness is leached out in the water they are cooked in.

The only people who generally need additional vitamins are Vegans and vegetarians. Meat eaters generally do fine without additional supplements.

We however do need some namely Vitamin C and folic acid (for any female of reproductive age. Some of us eat very little meat.. which is a bad idea then get iron deficiency and iodine if they avoid sea fish.

But these problems are not restricted to HFI'ers but everyone.

I hope this makes sense?

Keep smiling and as I write this stay inside and avoid people as much as you can. the sooner we get this virus under control the less people will die.

The sooner you are in lockdown the sooner it can be released and the fewer people will die as a result.

There is no specific worries for people with HFI and Corona Virus just be sensible and if you need to go into hospital print out as much on HFI as you can and take with you the biggest issue we have is with Sorbitol in I.V meds. there are always alternatives, but they might take some time to obtain. hence warning the relevant authorities asap should hospitalization be required.

[sonja]

colormist: In fact you don't sound like the usual house guest 😊 But that’s what I need to learn now, to take my instincts more seriously and not just eat something out of politeness.

Very interesting that the values directly after eating unsafe ingredients are so extreme. But I guess it also makes sense that the liver is busy for some time go get the fructose-1-phosphate out of the system and shows bad values then, but is not permanently damaged and shows good blood values a few days later.

That makes sense about the ultrasound being only made when it is necessary. It was a suggestion by my doctor and since I didn’t know any better, I was glad they looked at it. But I guess haz is right, if the blood values are fine, the ultrasound will most likely show a healthy liver (it was like that in my case).

haz: Very interesting about the ancestry test! Can this test tell if you have HFI or just if you are a carrier? And I guess it can only detect the most common mutations, right?

It must have been nice to have had a companion as a child, so that people around you might have realized that there is more to it than just being a fussy eater. But if I reread your answer about the doctor, I realize that wasn't necessarily the case. I hope that the situation is better today and that especially pediatricians are more aware of HFI. My mother was also told by the doctors that I had to be a fussy eater and she became a bit sad when I told her almost 30 years later what was wrong with me all this time. Well, I'm glad I know now.


@bill: Thanks for the information about the liver and why it might look abnormal. Do you know if this increased glycogen storage “function” of the liver is caused by exposure to unsafe foods??

Yes, I also think that an HFI-diet has some advantages. You just have to let go of traditional concepts of eating healthy. Since I got my diagnosis, I've been trying to eat less convenience foods and cook more from scratch – a good way to pass time during corona lockdown. Nice to know that having HFI could also have evolutionary advantages 😊

[ukbill]

As far as I can find out we all have a "bright sparkly" liver that is always diagnosed by ultrasound scans as a "fatty liver" when an MRI scan then shows it to be clear.

So an Ultrasound scan is expected to show a fatty liver. however if it has black areas, abnormal blood flow etc... that's another story altogether and in people with uncontrolled diets far too common.

[christi]

Feb 28, 2020 7:06:08 GMT -5 sonja said:

Hi everyone

I’m 28 and this week my HFI-diagnosis was confirmed via genetic testing at the University Hospital Zurich. Although I have been suspecting that I might have HFI for about a year now, I’m still amazed by the fact, that such a rare condition is responsible for my whole eating habit I thought to be based solely on my preferences.


I found out, when I saw a nutritionist regarding the prevention of osteoporosis (because it runs in my family), and she suggested that I might have fructose malabsorption – since I don’t eat any sweets/ fruits and very few veggies by choice. She said if I wanted to find out, I could try drinking a glass of apple juice and watch my reaction. Of course, the drinking was a torture and about an hour later I got quite sick, a sickness that I’ve had in the past when I was invited and ate food I didn’t actually like. So, I googled a bit and came across HFI. Since then, it took a year to get the genetic confirmation and on the way I met a gastroenterologist who claimed that I couldn’t have this dis-ease because it gets diagnosed in childhood and I wouldn’t be able to tolerate even slightest amounts of sugar in bread etc.


Anyway, I’m happy that I know now, so I no longer feel bad about eating “unhealthy”. My blood values look fine and next week I’ll have an ultrasound of my liver.


Are there others that have only found out in adulthood that they have HFI? Did you change a lot of your diet when you found out? My doctor said, I wouldn’t have to change anything, since I’m al-ready eating so little fructose and I seem to have a rather high tolerance. But starting to read labels I discovered that I eat a couple of things with a small amount of sugar or sorbitol in it (e.g. also stuff like toothpaste, mouthwash).


I’m very happy that I’ve found this board, it’s great to know that there are others out there with similar experiences and also, it’s a great source of information!