HYPOPHOSPHATASIA
Around September of last year, after Wyatt had lost his first two teeth at such a young age I started to get pretty concerned. Skylar & Hank had not started losing teeth until well after 5. Probably closer to 6 so I just knew that this was not normal. Our neighbor had referred a Dentist that she takes her kids to, Dr. Greenhill of Union Pediatrics Dentistry. They were able to get him scheduled right away. They did a regular cleaning on him and then the Dr. Greenhill took a look at him. He definitely agreed that he was very young to be losing teeth, but said that it may be nothing to be concerned about. He said that he'd like to take x-rays to make sure that he didn't have anything going on that he couldn't see.
The x-rays came back, and he did have bone loss in the bone under the gums. He saw it mostly on the bottom & couldn't really see any on the top, but he had moved during the X-Ray. Dr. Greenhill recommended that we follow up with Wyatt's Pediatrician to have his blood drawn to rule out this very uncommon Genetic Disease called Hypophosphatasia. I had also explained to him earlier in the appt how off his teeth looked when they came out so he asked me to email him a picture if I had one. The root was extremely long & I had never seen anything like it.
I scheduled his appt with the Family Dr and he said he thought it was very unlikely that Wyatt had Hypophosphatasia, but he gave us orders to go to the hospital to have his blood drawn. The first time that we went was an evening after work & we pre-registered & waited. When it was his turn, the girl at the desk asked me if Wyatt had been fasting. I said of course he hasn't been fasting, it's 6PM. I was never told he had to fast, so I just asked if he could give the urine sample. He was able to do that, but the following day I got a call saying that the urine was not stored properly so he needed a re-test. That wasn't that big of a deal since we had to go back anyway. We went back over the weekend & he fasted. He gave a urine sample again & they drew his blood and he took it like a champ! We left, thinking we were done. Last time we had to go. FALSE. We got another call that they didn't store the blood correctly, so we had to come back again, but he did not have to fast this time. They drew it the second time and he still took it good, but not as well as the first time. Got a call a few days later that they STILL did not store it correctly & at this point I was pissed. I felt horrible for Wyatt for having to go through this. This was not necessary & they're mistake and they needed to fix it! I spoke to the manager of the lab & he reassured me that they had given specific instructions & he apologized & offered us some stupid coupons that we didn't even use. Wyatt took it the hardest the third time, but still better than I expected. His blood work came back and pointed to Hypophosphotasia, so we were then directed to follow up at Children's Medical Center in Cincinnati with a Genetics Dr. We made the appt & during the appt the Dr said that he did in fact have Hypophosphatasia. He said that he was very healthy looking though and just recommended a bone density scan to see if any other parts of his body were being affected & then said to come back to see him in 6 months. He also recommended that he not play physical sports. He recently had the bone density scan & even though I have not heard back from the Dr at Childrens, the the tech said that his spine looked normal so that was a huge relief!
He just had a cleaning at the Dentist on Monday and had no cavities or any other loose teeth which is great. They did a few more X-Rays and the Dr said that he may have a little bit of bone loss in the back of his mouth but nothing serious. Again, he moved a little so it was hard for him to tell. He said we'll just keep an eye on him & we'll come up with a game plan as we go.
What is Hypophosphatasia (HPP)?
 | Hypophosphatasia is an inherited metabolic (chemical) bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP). Enzymes are proteins that act in the body's chemical reactions by breaking down other chemicals. ALP is normally present in large amounts in bone and liver. In hypophosphatasia, abnormalities in the gene that makes ALP lead to production of inactive ALP. Subsequently, several chemicals - including phosphoethanolamine, pyridoxal 5'-phosphate (a form of vitamin B6) and inorganic pyrophosphate - accumulate in the body and are found in large amounts in the blood and urine of people with Hypophosphatasia. It appears that the accumulation of inorganic pyrophosphate is the cause of the characteristic defective calcification of bones in infants and children (rickets) and in adults (osteomalacia). |
In general, patients are categorized as having "perinatal", "childhood" or "adult" hypophosphatasia depending on the severity of the disease, which in turn is reflected by the age at which bony manifestations are first detected. Odontohypophosphatasia refers to children and adults who have only dental, but not skeletal, problems (premature loss of teeth).
The x-ray changes are quite distinct to the trained eye. Similarly, the diagnosis of hypophosphatasia is largely substantiated by measuring ALP in the blood (a routine test) that is low in hypophosphatasia. However, it is important that the doctors use appropriate age ranges for normals when interpreting an ALP level.
Prevalence
It has been estimated that severe forms of hypophosphatasia occur in approximately one per 100,000 live births. The more mild childhood and adult forms are probably somewhat more common. About one out of every 200 individuals in the United States may be a carrier for hypophosphatasia
Prognosis
The outcome following a diagnosis of hypophosphatasia is very variable. In general, the earlier the diagnosis is made the more severe the skeletal manifestations. Cases with severe, not mild, deformity at birth almost always have a lethal outcome within days or weeks. When the diagnosis is made before six months of age, some infants have a downhill and fatal course, others survive and may even do well. When diagnosed during childhood, there can by presence or absence of skeletal deformity from underlying rickets, but premature loss of teeth (less than five years of age) is the most common manifestation. Adults may be troubled by recurrent fractures in their feet and painful, partial fractures in their thigh bones.
Symptoms
Depending on the severity of the skeletal disease, there may be deformity of the limbs and chest. Pneumonia can result if chest distortion is severe. Recurrent fractures can occur. Teeth may be lost prematurely, have wide pulp (inside) chambers, and thereby be predisposed to cavities.
Inheritance Factors
The severe perinatal and infantile forms of hypophosphatasia are inherited as autosomal recessive conditions. The patient receives one defective gene from each parent. Some more mild (childhood or adult) hypophosphatasia cases are also inherited this way. Other mild adult and odonto hypophosphatasia cases seem to be inherited in an autosomal dominant pattern (the patient gets just one defective gene, not two, transmitted from one of his/her parents). In this form, mild hypophosphatasia can occur from generation-to-generation. The perinatal form of hypophosphatasia can often be detected during pregnancy by ultrasound and by measuring ALP activity in chorionic villus samples from amniocentesis.
Individuals with hypophosphatasia and parents of children with hypophosphatasia are encouraged to seek genetic counseling to explain the likelihood and severity of hypophosphatasia recurring in their families.
Treatments
As yet, there is no cure for hypophosphatasia and no proven medical therapy. Some medications are being evaluated. Treatment is generally directed towards preventing or correcting the symptoms or complications.
Expert dental care and physical therapy are recommended. An orthopaedic procedure called "rodding" may be especially helpful for adults with painful partial fractures in their thigh bones. Severely affected infants may manifest increased levels of calcium in their blood that may be treated with calcitonin and certain diuretics. Doctors should avoid the temptation to give calcium supplements or vitamin D unless there is clear-cut deficiency.
No comments:
Post a Comment