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A forum for discussion of alternative therapies for HPP symptom management.
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In especially severe cases of HPP, defective skeletal mineralization may cause the skull bones not to grow or to prematurely fuse (craniosynostosis). This limits the space that the brain has to grow.
When severe, craniosynostosis may increase the pressure of the fluid surrounding the brain, causing headaches, bulging of the eyes, and other neurological problems. Examination of the back of the eye by an ophthalmologist or neurologist can help detect papilledema, or swelling of the optic disc, as a sign of increased pressure.
In the most severe (perinatal and infantile HPP cases), the low levels of TNSALP can cause vitamin B6-dependent epilepsy. TNSALP is also responsible for changing pyridoxal 5-phosphate (PLP), the most abundant form of vitamin B6, into a form that the brain can take up and use. With severe deficiency of TNSALP, vitamin B6 cannot sufficiently enter the brain. This alters neurotransmitter signaling within the brain, leading to seizures.
Elevated blood levels of PLP are an important and routinely available biochemical marker of HPP and help to make the diagnosis.
HPP can cause premature closure of the soft spots in a baby’s skull, causing pressure on the brain. This forum is dedicated toward addressing topics specific to craniosynostosis and chiari malformation.
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HPP Effects on Teeth
When properly mineralized, a substance called cementum coats each tooth root allowing it to anchor properly to the jaw. In children with HPP, the cementum is undermineralized. This can cause deciduous teeth to come out prematurely and painlessly (before 5 years of age), with the large root completely intact. Typically, the front teeth (incisors) are lost, and then sometimes others depending on the severity of HPP.
Odontohypophosphotasia, the mildest form of HPP affects only the teeth. The bones appear healthy. Premature loss of teeth occurs during childhood, or poorly understood dental problems emerge in adulthood.
Questions about dental management including hygiene, orthodontia and cosmetic procedures should be discussed in this forum.
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This forum is a place to share experiences and support each other through the emotional impact of living with a chronic, rare disease.
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For general questions that fall outside our Community Forums.
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HPP is a genetic disease and this forum was created for discussion of genetic-related topics.
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A place for new parents of HPP babies to share experiences and ask questions.
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This forum is for questions about the neurochemistry of HPP.
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HPP Effects on Joints
Patients with HPP may seem to have inflamed widened joints, but this can instead reflect irregular bony mineralization causing widening of the cartilage and bone at the physes and metaphyses. Bowing deformity can also stress the joints. In serious cases of HPP, chronic pain and debilitation can occur from bone marrow edema.
In HPP manifesting during the pediatric years, poor skeletal mineralization can compromise the development of long bones. There can be irregular or widened growth plates and bowing of the legs, or knock-knee deformity. Fractures sometimes occur.
Impaired development in the leg bones may delay walking and there may be a distinctive “waddling” gait reflecting also underlying muscle weakness.
This forum is dedicated to topics specific to bone and joint abnormalities, care and surgery.
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PT can help reduce pain and increase range of motion. Ask questions about physical therapy in this forum.
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HPP Effects on Kidneys – In infants with especially severe HPP, the block in bone mineralization can put excessive levels of calcium into the bloodstream (hypercalcemia). In turn, the excesses of blood calcium spill into the urine, sometimes causing calcification (nephrocalcinosis) or other damage in the kidneys.
Nephrocalcinosis and other kidney disturbances can reduce kidney function.
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HPP Effects on Ribs
In severe pediatric HPP, poorly mineralized ribs within the skeleton can cause deformities consistent with the soft bones of rickets.This appears as knobby bone and cartilage around the costochondral joint (where the rib bone and costal cartilage meet at the front of the chest), “rosary ribs”.
In especially severe HPP, rib fractures, unmineralization, and deformity including a depressed rib cage, can lead to breathing difficulties and pneumonias that are sometimes fatal.
In some cases of HPP, patients may have tracheotomies to assist with breathing. This is also a place to talk about respiratory challenges that can occur with HPP, such as respiratory infections or pneumonia.
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This forum is for people who are on asfotase alfa therapy or considering therapy.
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This forum was created as a place to discuss experiences with dietary supplements and approaches to help with symptom management.