Getting a diagnosis on NHS as an adult

[tallpaul]

Hi,

How likely is it that my GP would refer me for genetic testing if i just make an appointment and say i've done some research and think i might have HFI based on the following?  Given the rarity of the condition i'm not sure my GP will have even heard of HFI so may not take this seriously.

• I'm in my late 40s and have never liked sweet foods.  If I do eat even a small amount of sweet foods i feel nausous / light headed.  I am however able to tolerate glucose tablets which got me round three marathons.  Excessively sugary drinks make me vomit (e.g. medicine syrups as a child, aftershockz as a young adult)
• I've done the 23andme test which came back as "not determined" on N334K.  According to their guidance this may either indicate a lab error or that i have the variant on both copies (their tests are supposed to be for confirming carrier status and i guess they aren't licensed to provide diagnosis).
• I have Gout which is controlled through Allopurinal but my uric acid levels are all over the place (i have read that HFI means that fructose raises uric acid levels).
• I have an accessory spleen and slightly low platelet count, i have read that HFI is associated with enlarged spleens, so wondering if this is related.
• Assuming i do have HFI then i assume there would be health benefits from trying to totally eliminate all fructose from my diet but if not then i would be better to continue to eat the few vegetables that i can tolerate to get close to the "5 a day".

Given the rarity of the condition i'm not sure my GP will have even heard of HFI so may not take this seriously.


If it's likely to be a hassle to go through my GP, i'm happy to spend a few quid for a private genetic test but haven't seen any advertised with prices in the UK and don't want to spend several hundreds pounds going to a specialist consultant.

Thanks for any advice.

[ukbill]

Sorry I thought I had replied to this last week.

1st you need to present your doctor with a request to be referred to a metabolic clinic. There are 25 around the UK but only 2 I know of who know or understand HFI at all. Birmingham and Addenbrookes Cambridge.

I know a few who use Addenbrookes (myself included) and who travel there from as far afield as Sheffield Cornwall and Stafford (myself).

I do not know where in the UK you live so cannot advise much further than that.
the Addenbrookes contact is "Gaff, Lisa" <[e-mail]>
send her an email introducing yourself and she will sort it out from there. The key consultant is Mr Deegan they are a really great dedicated team.
01223 274634
If you need contact details for Birmingham let me know and I will ask someone who uses their services, although you should be able to find them using google of course.. lol what would we do with out google these days?

[tallpaul]

Thanks Bill, I'm based in SW London so Addenbrookes is manageable.

Will talk to my GP once i get the result from GHC (see update on other thread).

[ukbill]

I know there is a central London clinic too. but I have not had any dealings with them so cannot say how good they are.
Inherited Metabolic Disorders Service
Lysosomal Disorders Unit
Box 135
Tel: [phone]
E-mail: [e-mail]
Pass the above to your doctor save him/her the problem of looking it all up.

[beverley]

Jan 25, 2024 8:40:52 GMT -5 ukbill said:

Sorry I thought I had replied to this last week.

1st you need to present your doctor with a request to be referred to a metabolic clinic. There are 25 around the UK but only 2 I know of who know or understand HFI at all. Birmingham and Addenbrookes Cambridge.

I know a few who use Addenbrookes (myself included) and who travel there from as far afield as Sheffield Cornwall and Stafford (myself).

I do not know where in the UK you live so cannot advise much further than that.
the Addenbrookes contact is "Gaff, Lisa" <[e-mail]>
send her an email introducing yourself and she will sort it out from there. The key consultant is Mr Deegan they are a really great dedicated team.
01223 274634
If you need contact details for Birmingham let me know and I will ask someone who uses their services, although you should be able to find them using google of course.. lol what would we do with out google these days?

[beverley]

I'm 60 years old and was born with HFI as were my two brothers it was passed down from my dad ... my mum had some idea from very early on as my dad soon realised that we all had it. I have never eaten fruit as I can't tolerate the sweetness infact I don't eat anything with any kind of sweetness ie chocolate, cake,biscuits... the foods years ago were much easier as it was mostly fresh unlike today .. so our diet consisted of green veg not peas, meat,shellfish,ofal,mushrooms,dairy ... I have never drank alcohol as mixers are all sweet .... There was one Doctor who has spent many years studying this professor Timothy Cox at Addonsbooke hospital Cambridge ... I hope this helps
Beverley

[ukbill]

That Clinic in Cambridge was set up by Prof Tim Cox and yes he is still involved in HFI research and helping people.

[susan]

Hello Tall Paul,
I got back on the board because I am 65 and am experiencing Gout for the first time in my life. HFI makes one strict with food choices, and so does Gout. My options for food have reduced. How ironic: What is good for HFI is bad for gout, and vice versa. I wish to avoid medications as long as I can. But I am interested in how it works for you.
I now may be dealing with a genetic reduction to process B12 and folic acid. I am trying the Methylated versions. I am hoping for the best. Susan

[ukbill]

Susan are you taking multi vitamins by any chance?
The reason I ask is because I used to believe the HFI diet was very bad on micronutrients and vitamins.. how wrong was I?
Whenever I take multi vitamins I find the amount of Vitamin A is far too high for me.
Perhaps I am not good at getting rid of excess vitamin A however I do know too much is both addictive and extremely dangerous for our livers!
I was getting Gout like symptoms (without the high Uric acid in the blood) This was due to excess vitamin A crystallising out inside my joints.
It was extremely painful!

If you are eating enough red meat you should not need any B vitamins at all and folic acid should be perfectly fine also because there is a lot of it in beef and lamb.
I always recommend that any female of reproducing age takes Folic avid as a supplement but that is because someone I know (none HFI) lost a child at full term due to Spina Bifida which was so very sad. their 1st child also.

Another thought has occurred. Gout is an excess if uric acid in the blood.

When was the last time you had a Kidney function check?
The reason I ask is because HFI can cause damage to the kidneys, usually this occurs before we get on a safe diet.
However as we age this can happen at any time.
My suggestion is for you to get a full MOT (an MOT to a Brit is an annual road safety check on all vehicles over 3 years old), so to speak, at your Genetic clinic that you are under.

I am assuming you are UK based or somewhere with decent Medical services ahh you are in America so that will be a no then.
Sorry about that, the costs of the American system is beyond a joke, and leaves most people unable to afford the medical services they need.
Keep smiling

[tallpaul]

Jun 13, 2024 21:42:03 GMT -5 susan said:

Hello Tall Paul,
I got back on the board because I am 65 and am experiencing Gout for the first time in my life. HFI makes one strict with food choices, and so does Gout. My options for food have reduced. How ironic: What is good for HFI is bad for gout, and vice versa. I wish to avoid medications as long as I can. But I am interested in how it works for you.
I now may be dealing with a genetic reduction to process B12 and folic acid. I am trying the Methylated versions. I am hoping for the best. Susan

Sorry to hear that, gout is not pleasant!

I was diagnosed with gout before I knew HFI was a thing.  The rheumatologist asked me about my diet & lifestyle and concluded that, since i didn't have any of the common risk factors for gout and my serum urate levels were very high, that medication was the only option.

There is a clear link between excess fructose intake and raised uric acid levels which are the main controllable direct cause of gout ... what my rheumatologist didn't know was that, due to HFI, my apparently low fructose intake was still more than my body could handle.

I'm hoping that by reducing the hidden fructose in my diet I can reduce my serum urate levels and can come off the gout medication in due course but am still at an early stage of managing my HFI.

I don't think its correct that "what is good for HFI is bad for gout, and vice versa" unless you have totally eliminated all fructose from your diet and are very unlucky that something else is causing your gout.  Obviously most guidance for gout is not written from an HFI perspective so understandable that it doesn't focus on eliminating fructose.

In terms of medications, i found that Alopurinol has been effective as a preventative with no noticeable side effects, although it did take the best part of a year before i stopped having flare ups (this is normal as the uric acid crystals which cause gout flares take time to dissolve even after my uric acid levels were reduced).  In the interim I found colchicine was effective in managing flare ups but not everyone's guts can tolerate it (the standard protocol is to increase the dose until either the gout subsides or you get diarrhea ... i've been lucky that the gout subsided first).  I also found that any viral infection or vaccination would trigger an attack so made sure i had a supply of colchicine on hand before i had my covid jabs (gout flares are an immune response so more likely when the immune system is primed to fight off something else).