Table of ContentsView AllTable of ContentsTypes of HypophosphatasiaHypophosphatasia SymptomsCausesDiagnosisTreatmentPrognosisCopingNext in Hypophosphatasia GuideHypophosphatasia Symptoms and Causes
Table of ContentsView All
View All
Table of Contents
Types of Hypophosphatasia
Hypophosphatasia Symptoms
Causes
Diagnosis
Treatment
Prognosis
Coping
Next in Hypophosphatasia Guide
Hypophosphatasia (HPP), also known as Rathbun disease, is a rare inborn disorder that affects the development of bones and teeth. In HPP, a genetic mutation impairs the ALPL gene, which regulates mineralization (or “calcification”), a process essential for bone and tooth strength.
The severity of this condition varies. More severe cases, in whichskeletal abnormalitiesare present at birth, are seen in about 1 in 100,000 newborns.Management of this condition ranges from taking nonsteroidal anti-inflammatory drugs (NSAIDs) and usingorthoticsto injections of the drug Strensiq (asfotase alfa).
The severity of hypophosphatasia is closely tied to the age of onset of symptoms. There are six major clinical forms that doctors diagnose:
Verywell / Jessica Olah
There’s a great deal of variation when it comes to how cases of HPP present, with some symptoms associated only with certain forms of the condition. In addition, there are many individual differences when it comes to symptoms of this genetic disorder. Its features in one family member may not resemble those of another.
The symptoms of perinatal HPP, present while in the womb, lead to severe developmental issues, including:
Children with infantile and childhood HPP are also more likely to experience skeletal abnormalities, including:
Finally, adults with HPP may experience:
Affected individuals produce a nonfunctioning form of TNSALP, which allows compounds called inorganic pyrophosphates to build up in the body. In turn, this inhibits mineralization. The intensity of symptoms is directly related to the amount of TNSALP the body produces, with the most severe cases arising when ALPL mutations completely halt its production.
As with other developmental disorders, the diagnosis of HPP involves both an assessment of symptoms and other kinds of tests. Approaches include:
Since HPP can take many forms and ranges in severity, treatment of the condition is typically multidisciplinary and always tailored to the individual case. Typically, a team of pediatricians, orthopedic surgeons, pedodontists (specialists in children’s dental care), and other specialists work together to manage care. While there is no outright cure, a number of approaches are used to take it on:
Further, several pharmaceutical approaches may be taken:
In addition, since HPP is an inherited condition, genetic counseling with families may be employed when cases emerge.
Hypophosphatasia Therapies Under Investigation
There are several therapies currently being researched that have shown efficacy in treating HPP:
While dependent on the severity of HPP, the prognosis for perinatal and severe infantile HPP cases can be very poor. Prior to the development of current therapies, an estimated 58% to 100% of cases led to death within the first year.Those who survive infancy may have persistent health problems and diminished quality of life.
That said, the outlook is improving. Dedicated treatments can certainly yield positive results for more severe cases, and there are many approaches that help take on the impact of living with HPP. Also, those with severe HPP are entitled to protections and accommodations in workspaces, schools, and public areas as part of the Americans with Disabilities Act.
No doubt, there are many challenges associated with living with HPP, and this often lifelong condition can severely impact mental health. Furthermore, families of those with the condition will inevitably also feel an impact. Strategies that could prove invaluable for taking on the condition include:
A Word From Verywell
Since there is no single treatment—and since no two cases are alike—management of HPP is an always-evolving process. While that road may be challenging, remember that it’s one not traveled alone. Alongside dedicated specialists, you have the support of family and friends and a growing community of patients worldwide.
With advances in the understanding of HPP come advancements in its management. On top of existing therapies for the condition are newer ones showing promise. While there’s still more work ahead, it’s important to remember how far we’ve come.
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Institutes of Health.Hypophosphatasia. MedlinePlus Genetics.National Organization for Rare Disorders.Hypophosphatasia. Rare Disease Database.Shapiro J, Lewiecki E.Hypophosphatasia in adults: clinical assessment and treatment considerations.Journal of Bone and Mineral Research. 2017;32(10):1977-1980. doi:10.1002/jbmr.3226Martos-Moreno G, Calzada J, Couce M, Argente J.Hypophosphatasia: clinical manifestations, diagnostic recommendations and therapeutic options.Anales de Pediatría (English Edition). 2018;88(6):356.e1-356.e11. doi:10.1016/j.anpede.2017.06.006Offiah A, Vockley J, Munns C, Murotsuki J.Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.Pediatr Radiol. 2018;49(1):3-22. doi:10.1007/s00247-018-4239-0ADA National Network.What is the Americans with Disabilities Act (ADA)?.Harvard Health Publishing.10 steps for coping with a chronic condition. Harvard Health.
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Institutes of Health.Hypophosphatasia. MedlinePlus Genetics.National Organization for Rare Disorders.Hypophosphatasia. Rare Disease Database.Shapiro J, Lewiecki E.Hypophosphatasia in adults: clinical assessment and treatment considerations.Journal of Bone and Mineral Research. 2017;32(10):1977-1980. doi:10.1002/jbmr.3226Martos-Moreno G, Calzada J, Couce M, Argente J.Hypophosphatasia: clinical manifestations, diagnostic recommendations and therapeutic options.Anales de Pediatría (English Edition). 2018;88(6):356.e1-356.e11. doi:10.1016/j.anpede.2017.06.006Offiah A, Vockley J, Munns C, Murotsuki J.Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.Pediatr Radiol. 2018;49(1):3-22. doi:10.1007/s00247-018-4239-0ADA National Network.What is the Americans with Disabilities Act (ADA)?.Harvard Health Publishing.10 steps for coping with a chronic condition. Harvard Health.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Institutes of Health.Hypophosphatasia. MedlinePlus Genetics.National Organization for Rare Disorders.Hypophosphatasia. Rare Disease Database.Shapiro J, Lewiecki E.Hypophosphatasia in adults: clinical assessment and treatment considerations.Journal of Bone and Mineral Research. 2017;32(10):1977-1980. doi:10.1002/jbmr.3226Martos-Moreno G, Calzada J, Couce M, Argente J.Hypophosphatasia: clinical manifestations, diagnostic recommendations and therapeutic options.Anales de Pediatría (English Edition). 2018;88(6):356.e1-356.e11. doi:10.1016/j.anpede.2017.06.006Offiah A, Vockley J, Munns C, Murotsuki J.Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.Pediatr Radiol. 2018;49(1):3-22. doi:10.1007/s00247-018-4239-0ADA National Network.What is the Americans with Disabilities Act (ADA)?.Harvard Health Publishing.10 steps for coping with a chronic condition. Harvard Health.
National Institutes of Health.Hypophosphatasia. MedlinePlus Genetics.
National Organization for Rare Disorders.Hypophosphatasia. Rare Disease Database.
Shapiro J, Lewiecki E.Hypophosphatasia in adults: clinical assessment and treatment considerations.Journal of Bone and Mineral Research. 2017;32(10):1977-1980. doi:10.1002/jbmr.3226
Martos-Moreno G, Calzada J, Couce M, Argente J.Hypophosphatasia: clinical manifestations, diagnostic recommendations and therapeutic options.Anales de Pediatría (English Edition). 2018;88(6):356.e1-356.e11. doi:10.1016/j.anpede.2017.06.006
Offiah A, Vockley J, Munns C, Murotsuki J.Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.Pediatr Radiol. 2018;49(1):3-22. doi:10.1007/s00247-018-4239-0
ADA National Network.What is the Americans with Disabilities Act (ADA)?.
Harvard Health Publishing.10 steps for coping with a chronic condition. Harvard Health.
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