Hello is there anyone out there in the UK with adult Hypophosphatasia. If so I would be grateful to hear from you as I am searching for support and answers. Many thanks.
Elderberry.
Hi, I realise this is getting on for a year now since you posted but I have just spotted it.
Yes I have hypophosphatasia. Are you still interested?
Julie14
I have been diagnosed with adult onset hypophosphatasia. I am happy to make contact with anyone else who has the condition.
Hi Gardiner,
Nice to meet you. Do you mind me asking how did you get a diagnosis of HPP? Do you get fractures or were you picked up another way. Amazes me that anyone gets picked up as an adult as no doctor I have met seems to know very much about it.
I'm in UK, presuming that you are.
Hi, I'm also in the UK, I was diagnosed with Familial Hypophosphatasia last month. I had lots of blood tests and did a 24 hour urine analysis which is how my condition was detected. I went to the doctor complaining of extreme fatigue and lots of other "non specific" symptoms (this went on for 13 years) and at the last instance I'd had enough and begged to be referred to see a specialist, I got my wish and my diagnosis. I have been bombarded with a lot of Vitamin D to take to see if some of the symptoms can be alleviated but he made it clear the condition is incurable. I have to go back to see him in January and have to have more blood tests and another urine analysis a week before my appointment. I'm also Hypothyroid which was diagnosed 13 years ago. Has anyone else suffered from extreme fatigue as a result of this condition? I can't help but think there is some other underlying condition and that the HPP was found by accident.
Hi Petal4,
Snap! Yes, fatigue and also autoimmune thyroiditis. I'm not sure that the fatigue is due to the hypophosphatasia (HPP) though although many people do complain of fatigue. I think its hard to prove the connection, especially being hypothyroid which also cause a slowing down of everything. I suppose its worth making sure the thyroid is being correctly treated. If you are being treated by the TSH alone for this then its worth bearing in mind that the UK reference range of 'normal' is much higher than many countries and there is a debate that anything over 2.5 should be treated. Do you know your T4 & T3 levels?
Re the vit D, I hope your doctor is monitoring your calcium and phosphate as vit D can raise these and in HPP it is very important to keep these as close to normal as possible. Vitamin D is usually contraindicated although I take a low dose but have it monitored every 3 months.
This website may be of interest if you haven't already spotted it:
http://www.hypophosphatasia.com/sources-support/rare-disease-organizations
All the best to you.
Hello Petal
I too have fatigue. I think is due to the constant pain. I don't get the fractures but I get build ups of calcium on my bones and down my tendons. I have had two operations to remove 8mm hooks this year. I also have adult hypophosphatasia. It would appear there are many different variations in symptoms. I agree that the link to the above site given by Juliana is great. I don't know of anything in the UK as yet although I have just been taking part in some research into the effects of HPP on my daily life by Alexion. Best wishes to you all.
Hello. How were you diagnosed with hypophosphatasia as an adult?
Hi,
i have hypophosphatemic osteomalacia and looking on line these seem to be similar in many ways. I am in the UK. I don't know about you but I find most doctors have never heard of this.
How is it affecting your daily life? Mine is badly disrupted and I am unable to work.
Well, I have been experiencing symptoms that mimic MS and Fibromyalgia. I even had a lumbar puncture and brain mris. Nothing was conclusive. My friend suggest I go back to my rheumy and she said my symptoms look just like Fibro. But there's another rare disease that mimicks the symptoms. So I had blood work and I have low alkaline phosphate (32) and high Vitamin B 6. I was referred to an doctor at UCLA who has taken an interest in the rare condition.
Are you not able to work because of the pain? Brain fog? Internal organ problems? I read all these scary things that can go wrong. I am so very sorry you are suffering. If I may ask, how did they diagnose you?
Hello all
there is now the RUDY study in the UK. It is researching a lot of rare bone diseases in the UK. Have a look at the link https://research.ndorms.ox.ac.uk/rudy/home
it would be wonderful if you were able to sign up. Especially HPP patients as we are short on numbers for the study
all the best
elderberry
I am not able to work due to the pain, broken bones, fatigue and there is a certain amount of brain fog. I have had over 20 fractures in the last few years but now my problems are mainly spinal and related to damage done before I was diagnosed. I have had 5 lumbar operations and now 2 more on my neck. This is due to damage of the vertebrae. They have not cured it so I am now waiting yet another MRI so they can see what is happening. There is the possibility of more operations plus I have now been referred to orthapeadics as my shoulders are giving problems.
if you look back on the hypophosphatemic osteomalacia thread I have given a short explanation of what I believe this cursed bone condition does and the mechanics of it.
Hi! How have you been experiencing your HPP? I am in the U.S. and just got diagnosed. I was referred to an orthopedic surgeon who is taking an interest in this disorder (especially adult onset HPP which is what I have. I was told to definitely not take Vitamin D. And also the literature my rheumy sent me about the disorder made it clear that those with this condition should NOT take vitamin D or Calcium. I am 50 years old and a woman and my fatigue has been terrible. And I have pain and fatigue, how have you been faring since your last post? Since tha is progressive can I expect fractures in the future? There's a Dr Mike Whyte in the U.S. That is an expert in this disease. I'd appreciate a reply because I have lots of questions. Thank you
I was told at this point I have a mild version of HPP. The fatigue and pain is a problem. But the pain isn't severe. When did your symptoms start and has this disease been progressive? I read 1 out 3 will need devices to walk.
I'm sorry you are suffering. I'd like to know truthfully what I could expect to happen to me physically. And I will look into RUDY. Thank you so much.
Have you experienced an bone fractures or an increase of fractures as time goes on? Can you have this and not develop fractures? I'm in the U.S. And I just turned 50. My rheumy was smart enough to find it. I don't have any thyroid issues, just the low ALP. 33 to be exact. I guess I'd like to prepare myself for what's to come it it's inevitable. Thank you in advance for your response. I'm alone out here.
Why did you have 8 mm hooks? Has this been very painful and progressive for you? Sounds like it is.
Yes.
I was specifically told to not take vitamin D suppplements. In the Alexion brochure on HPP It cautions us on taking vitamin D and calcium.
How are you holding up?
I'm not a doctor, I would google a drug company called Alexion and HPP. In the literature I was given from my rheumatologist, it specifically said to stay away from vitamin D and Calcium Supplements. It's one of the rare conditions where you want avoid those two minerals. I'd research it yourself, but I met with a geneticist at UCLA medical center and she confirmed what I read. They just approved a drug to treat HPP in the U.S. In October 2015. Do the British google or do you have another more popular search engine?