HFI Informational Documents

[antonia]

Wondering if anyone might have documents, diagrams, etc. that you use to inform family, schools, care givers and such about what HFI is? Something not too technical? 

Thanks in advance.

[tummyache]

I like the following article which I edited to explain to non HFI'ers about our condition:

HFI - A FOOD INTOLERANCE IN CHILDREN AND ADULTS

www.imd-berlin.de/en/diagnostics-information/hereditary-fructose-intolerance-hfi-a-food-intolerance-in-children-and-adults.html

Home > Für Einsender > Diagnostikinfos A-Z > Hereditary fructose intolerance (HFI) A food intolerance in children and adults

FRUIT SUGAR INTOLERANCE
Fructose (fruit sugar) is naturally present in most fruits and vegetables and is also a component of the disaccharide saccharose which is also known as sucrose or simply ‘sugar’. Fructose intolerance often manifests itself in infancy or childhood. However, it is not uncommon that the disease is also diagnosed only in adulthood.

FRUCTOSE INTOLERANCE IS AN ENZYME DEFICIENCY
Ingested fructose is metabolised in the liver. It is initially converted to fructose-1-phosphate. The enzyme aldolase B is responsible for the next conversion step. It takes on a central function in fructose metabolism and is localized in the cells of the liver, kidneys and small intestinal mucosa. Aldolase B cleaves fructose-1-phosphate into glyceraldehyde and dihydroxyacetone phosphate. If the aldolase B enzyme is missing or its activity is severely reduced, this is referred to as a fructose intolerance.

The lack of aldolase B means that fructose-1-phosphate cannot be cleaved. This leads to an accumulation of the fructose-1-phosphate in the cells with a serious toxic effect. The elevated concentration of fructose-1-phosphate also inhibits glycolysis.

CLINICAL SYMPTOMS OF HFI [go to site to see diagram + chart]

HFI is thus a fructose metabolic disorder which produces metabolites that are toxic to the liver (hepatotoxic) and cause low blood sugar symptoms (hypoglycaemia).
Chronic exposure to the sugar can lead to an enlarged liver (hepatomegaly) and increasing liver failure. It can even cause death in some infants.

Infants often develop clinical symptoms after weaning and introduction of infant foods (which contain fructose). The symptoms can range from pronounced hypoglycaemia with vomiting, sweat attacks and neurological symptoms to cramps, lethargy and growth disorders. The infant often develops an aversion to sweet foods and fruit. This instinctive aversion means that HFI not uncommonly remains undetected until adulthood! Complete elimination of fructose is, however, hardly possible without diagnosis and precise dietary instructions because fructose is present in many types of vegetables in small quantities. This means that people with undiagnosed HFI often suffer from highly complex symptoms such as diarrhea, vomiting, abdominal pain and bloating and there is a risk of irreversible liver and kidney damage. As a distinguishing feature, such patients often have no caries.

SYMPTOMS OF HFI

Sweating
Shivering
Vomiting
Apathy
Cramps
Clotting disorders
Hypoglycaemia
Food aversion
Growth disorders
Restlessness – crying
Tympany - bloating from gas
Hepatomegaly - enlarged liver
Diarrhea in some cases
Elevated transminase - markers on blood tests of liver damage
Edema - swelling

[tummyache]

Here's another article I like [also edited a bit]:

HFI - A CONSISE EXPLANATION
contentedbelly.com/2015/11/09/hereditary-fructose-intolerance/

• FRUCTOSE MALABSORPTION a digestive disorder, affects the digestive system and is not life threatening. [Occurs frequently in IBS]

• HEREDITARY FRUCTOSE INTOLERANCE is a metabolic disorder, which does not involve the digestive system; but can be life threatening. [Also called Fructosemia]

Hereditary Fructose Intolerance (HFI), an inherited disease affecting about 1 in 20,000 people, is when fructose is not properly metabolized in the liver. When we eat foods such as fruit, honey, sucrose, which is made up of half fructose and half glucose, the fructose is absorbed by the small intestine. The inability of the small intestine to absorb fructose is known as Fructose Malabsorption (FM) resulting in digestive and related symptoms. If fructose is properly absorbed by the small intestine it will then enter the liver to be first broken down into fructose-1-phosphate and eventually further metabolized into energy to be used by the body. The gene ALDOB produces aldolase B, which is the enzyme that both breaks down fructose-1-phosphate into its by-products and aids in the breakdown of glycogen, the storage form of glucose in the liver, which is another energy source used by our bodies. It has been demonstrated that HFI patients have a mutated ALDOB gene resulting in either loss of aldolase B production or production of a non-functional aldolase B. A deficiency of aldolase B will lead to a buildup of fructose-1-phosphate in liver cells, which is toxic and can cause long-term damage to the liver. Furthermore, fructose-1-phosphate needs to be further metabolized because its products are required for the production of glucose to stabilize blood sugar levels. Without aldolase B, hypoglycemia occurs.

Since the ALDOB mutation is recessive, individuals may not know that they carry the mutated ALDOB gene and may not have a family member who suffers from HFI. This can be dangerous since HFI is typically first seen in babies when they start on formula, juices, or fruits with fructose. Without knowing that a family member carries the ALDOB mutation, it can prevent the proper diagnosis of HFI. HFI can range from mild to severe so symptoms may vary. In fact, some HFI patients are not diagnosed until they are in adulthood. Symptoms may include abdominal pain, bloating, diarrhea, vomiting, nausea, fever, seizures, hunger, excessive thirst and urination, failure to gain weight and grow, and hypoglycemia. Furthermore, the liver can enlarge and jaundice and cirrhosis may occur. Coma and death may result if HFI is not properly diagnosed or treated.

Babies who survive will develop an aversion to fructose. However, this is difficult to do since fruit, vegetables, and 80% of the processed foods in our food stores contain fructose or sucrose. It is important for HFI patients to avoid fructose, sucrose, and sorbitol, a sugar alcohol, as much as possible to prevent the development of symptoms. Currently, the only treatment is controlling one’s diet. Fortunately, if caught early enough and if fructose is avoided, an HFI patient can live a healthy life.

HFI is a rare disorder but one that needs to be understood well so its symptoms can be prevented early. There are wonderful resources out there to help individuals or families learn more about the disease, including what to look out for and testing information. You can find a few resources below. The first resource is the Dean Tolan lab, the professor from my graduate school at Boston University.


Resources: see site
• www.bu.edu/aldolase/HFI/index.html
• www.ncbi.nlm.nih.gov/gtr/conditions/C0016751/
• ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance/show/Patient+support
1. www.nlm.nih.gov/medlineplus/ency/article/000359.htm
2. www.bu.edu/aldolase/HFI/
3. reference.medscape.com/article/944548-overview
4. www.foodintol.com/food-sensitivities/faqs-fructose
5. www.ncbi.nlm.nih.gov/pmc/articles/PMC1051308/pdf/jmedgene00234-0001.pdf
6. ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance

[antonia]

Thanks Tummyache. This is very helpful. I want to put together some kind of folder for my daughter so that if something happens to me others will know where to start in how to care for her.

[antonia]

Also, I'd like to start explaining to her what's going on in her own body, would anyone have very simplistic diagrams that could be used for young children? Probably wishful thinking that doctors provide parents with diagnosed children with something like that.

[rysmom14]

Colormist had a cool food pyramid which was a nice visual, and also there was a red, green and yellow chart that I tried to modify that we got from our Dr. I will look for that for you.

as far as starting to explain things to her, we try to work it in to conversation all the time. My son is almost 4. he loves to help in the kitchen, and always asks if he can try something. I tell him that his belly is different than his sisters so there are food that they can eat that he cant and that he would get very sick if he did. and that's why it is so important to only eat the food that I put in his lunch box. he talks a lot about his Dr's so I go with that and say that Dr. Areeg (his genetic dr.) would be very proud that you are eating healthy food. or that this is what Dr. Areeg said that he should be eating.

we even kinda quiz him and say "what would you say if someone at school gave you something to eat that wasn't in your lunch box" and he is getting better, but most of the time he says " I cant have that or I will get sick. I even try to have his twin help, but she is hit or miss.

I know that he is going to have to be his own best advocate, even more so than me because I cant go every where with him



I also make sure that when I have snack stuff for him so that he always has something if the others are muching on stuff too.

[tummyache]

Are you all familiar with this children's series: Little Parachute Books? [https://www.littleparachutes.com/category/health/allergies] They write a number of early childhood fiction books that are helpful for little ones who are having problems dealing with various issues. Unfortunately, I didn't see one for our problem; but there is one for celiac, and another for milk allergy or intolerance. Perhaps we could suggest they make one of us, or one of you clever Mom's could adapt one of the books for your child.

CHILDREN'S FICTION:

EOSINOPHILIC ESOPHAGITIS
Eating Isn't Always Easy: Ben's story about his Eosinophilic Esophagitis - Paperback – May 31, 2012 by Nancy S. Rotter Ph.D. (Author),‎ Qian Yuan M.D. P.h.D. (Author)
Amazon - www.amazon.com/Eating-Isnt-Always-Easy-Eosinophilic/dp/1466440732

FOOD INTOLERANCES
"Woolfred Cannot Eat Dandelions: A Tale of Being True to Your Tummy" - Paperback – September 15, 2014 by Claudine Crangle (Author, Illustrator)
Amazon - www.amazon.com/Woolfred-Cannot-Eat-Dandelions-Being/dp/1433816733/ref=pd_sim_14_3?_encoding=UTF8&pd_rd_i=1433816733&pd_rd_r=SQ6FBQSS0BESNE91KGFG&pd_rd_w=Bhffw&pd_rd_wg=KscG8&psc=1&refRID=SQ6FBQSS0BESNE91KGFG
Most sheep will eat almost anything, whether it s good for them or not. Woolfred is a sheep who cannot eat dandelions. He must learn to live amongst a flock of others who do not share his problem and do not understand it. He discovers that focusing on what s missing can mean not seeing the good things that are right in front of you. A Note to Parents by Frank Sileo, PhD offers information and strategies for developing an emotionally healthy attitude about living with food intolerances.

"Why Can't I Have a Cupcake?: A Book for Children with Allergies and Food Sensitivities" Paperback – January 9, 2015 by Betsy Childs (Author),‎ Dan Olson(Illustrator)
Amazon - www.amazon.com/Why-Cant-Have-Cupcake-Sensitivities/dp/1500594792/ref=pd_sbs_14_6?_encoding=UTF8&pd_rd_i=1500594792&pd_rd_r=SQ6FBQSS0BESNE91KGFG&pd_rd_w=wc2fV&pd_rd_wg=KscG8&psc=1&refRID=SQ6FBQSS0BESNE91KGFG
Rory loves cupcakes, but he can’t eat them because they make his tummy hurt. When he goes to his friend’s birthday party, he learns that he’s not the only one who has to avoid certain foods, and he has a great time at the party.

"Thai's Big Adventure In The City, Dealing with Food Allergies, My Food Allergy Friends"
[https://www.allergypunk.com/collections/kids-allergy-books/products/childrens-allergy-book-food-allergies-my-food-allergy-friends]
Particularly good is the idea of eating your own foods Mom has sent from home, not sharing food with someone else, etc.

[Stefanie (Ziba)]

Thank you, tummyache. I am going to order all these books to read to my 3 year old!

[colormist]

Here's a link to the food pyramid I made a while back. Feel free to change it to suit how restricted the diet is.

I've been meaning to make a diagram of what happens when HFIers eat fructose, but I haven't found the time. I think it would be super helpful for doctors, patients, families, and friends! Right now it only exists in my brain.

[rysmom14]

I am finally in my office and thought to try to attach some of the documents that I have accumulated.

The Which sugars to avoid is nice because there are some sugars that are not obvious and so this list is helpful if you are looking to try a new food.  The Food Pyramid is the same one that Colormist gave in an earlier post.  Not sure if having it as an attachment makes it easier to edit  and the last one, the red, yellow, green handout is the one that the genetics department at Children's hospital of Pittsburgh provided and I made changes so what I felt was more appropriate.  I did sent this version back to his metabolic dietician and she was slightly surprised at everything that I moved out of green.

If anyone can give me their input of the color coded one I would be happy to make changes.  or color mist, I know you add things to your blog, so please feel free to you this and change it. 

 Which Sugars to Avoid with HFI.docx (21.35 KB)

Food Pyramid.docx (714.6 KB)

Red yellow green handout- modified.docx (22.51 KB) 

[Stefanie (Ziba)]

I read the book "Why can't I have a cupcake?" to Remy. It backfired a bit because now he says he cannot eat the pancakes I make him because they have gluten! He may have identified TOO much with Rory (the main character). I think next time I read it to him, I will skip the last two pages were Rory's mom takes him to a gluten free bakery and all the issues are magically solved and he can eat whatever he wants.
Now, "Wolfed cannot eat dandelions" is excellent. It shows the struggle and doesn't give an easy way out- just pure willpower and not wanting to feel sick.