Adult Hypophosphatasia

Hi Lisa! My name is Jill & I was diagnosed with HPP in utero & very little was known about it back in 1973. I am 42 & still dealing with the disease. I am sure you have read various articles written by Dr. Michael White. He is the HPP guru on the disease. I live in the United States & he is located in St.Louis Missouri(barnes jewish hospital). I personally went to see him & he is always doing research & helping to study & treat the disease. I have been on various drugs such as fosamax,forteo(you can only be on this drug for 2 yrs by the FDA) & my current doctor is trying to get me on the drug alexion. The forteo drug really helped me in terms of not fracturing. I had my first break @ 22 & had been walking on stress fractures for over a year with no knowledge. In result, my femur broke in half. I have had many rib fractures as well as tibia fractures. The forteo helped increase my Alk Phos levels greatly. I have rods in both femurs & femural necks. I also get extreme inflammation around the bone. I am hoping to get approved for the alexion drug & hope it will continue to improve my health. If you have questions or would consider seeing Dr. White for help, they did offer me a fully funded visit to be studied. You may want to check him out if you haven't. Wish you all the best!

Hello Jing. I was just diagnosed with HPP this year and just applied to see if I can get the strensiq medication covered by insurance. It is very expensive and since I am an adult it would have to be prescribed off label because there is no proof or study that concludes that it works in adults although I've read the statistics for children and it seems like a miracle for them. I am in my mid 20's and it is already pretty disabling for me. From what I understand the younger the patient the more severe the disease, generally. I just saw a doctor at a big University in the states, probably one of the best medical programs in the world, and I am very frustrated. The doctor said I shouldn't have any dietary restrictions and said hpp usually effects the feet and lower legs. When I told the doctor it does effect me there but it's mainly my wrists, hands and elbows she said that doesn't sound like hpp even though I have read conflicting information from patients and studies I found online. Who am I to disagree with a doctor? I just told them I have hpp of the wrists and arms then because it's the same feeling as in my feet, hard to describe. It wasn't a good feeling to not feel like my pain was validated. I would like to make contact with anyone with HPP and get this thread going again. I look forward to any questions/replies thanks!

thanks for your reply, actually i have just contacted the royal manchester children's hospital and the consultant has just replied me last night and saying they have experince of managing patients of HPP wth Strensiqich is now licensed for this condition. 

?The treatment is excellent but is very costly and very expensive. and they are currently using medications in the patients on cases to cases basis.  most severe patients are currently being managed with Strensiq. UK governmen is still deciding on authorising medacation to all children with this condition. 

Early loss of teeth as a child was one symptom of HPP. I don't think that happened to me as far as I can remember, but I had endless cavities and fillings in place as a child which I thought was due to sugar! Also gum disease is another symptom which I had as an adult. I already could sense my teeth being weak as when I had to get teeth pulled out before my braces, my dentist was able to yank 3 teeth out in like under 1 minute and he was suprised I wasn't in extreme pain, which isn't a good sign! Apparently not everyone may get ortho symptoms with HPP I think. But in regards to your question of signs before falling out, I read somewhere that the tooth will easily and painlessly slide out with the root and all when it's ready. My teeth are generally sensitive to cold foods/drinks though. You'll notice the tooth loosening from the socket slowly, and it will be higher than the rest of your teeth (one of mine now, I've only had bottom ones fall out so far). As it is not ready to come out, when I drink something cold it's a bit painful or if food gets under it and touches the nerves. I avoid eating on the side of the loose tooth at all costs, as it hurts when you eat something and it grinds or slips on that tooth as it is not only wobbly but also at uneven heights to the rest. Hard to avoid if you have problems on both sides though In my xray of my teeth you can see the gum over the years deteriorating and exposing more of the tooth, which is scary as once the gum is gone, it is gone forever. Have you experienced any issues with your teeth in the past?

Also - I do remember feeling the symptoms of a toothache, thinking it was just my wisdoms coming out, even though I think they are completely out. But it was the same feeling as the loose tooth was at the back of my jaw. I kind of just ignored it and put it down to teeth just moving or something. It came randomly but it goes away. For my current loose tooth which is closer to the front, the pain was at that exact location, so I knew it was starting to loosen and get more sensitive.

The teeth issues are relatively new. However, my primary care doc unfortunately put me on a lot of vitamin D and calcum back in the Fall, and I think that contributed to this next "phase" of my HPP so to speak, which has included the aforementioned new teeth symptoms as well as a lot of nausea and some vomitting from what I'm guessing is calcification in my kidneys, but that will be confirmed in the coming weeks. 

Hi Lesley.

How did they determine you had HPP? And I have some great info for you if you are interested. Where are you located approx?

Lisa

I am interested in anything anyone can tell me about adult hypophosphatasia.. I had a serum biopsy test  (Which shows potential and upcoming problems) and it identified hypophosphatasia as a +2 (Mild-moderate) problem and chemical sensitivities/ allergy as +1 back in 1084. This became a disabling condition for me in my 20's & 30's, and I spent many years living in a tent, unable to work, go anywhere, or eat much because of it. Fast forward to 2006 when a trip on a tarp caused a dislocation of my femur and a shattering of the hip socket. SInce then I have had many bone breaks, joint problems and 2 replacements, and of lately, 2 foot fractures. My ALP is in the normal limits as is the bone specific ALP. Vit D and B6 have been high. I have not had a 24 hour urine or genetic testing done. I have Hashimoto's thyroiditis, (can not stay warm even taking thyroid), loss of teeth since my early 40's and raynaud's disease. Something is eating/eroding my bones at the joints, though all rheumatoid and autoimmune tests have been normal. Has anyone had normal tests and still get diagnosed with HPP. How did they do that? What are the most effective treatments any of you are using now? Any info would be helpful! Thanks!