Hypophosphatasia (HPP), also called Rathbun disease, is a rare inherited disorder that affects the development of bones and teeth. It is thought to affect approximately 1 in 100,000 to 1 in 300,000 individuals of all ages.
The symptoms of hypophosphatasia will vary widely depending on the age of onset and severity of the condition, and can appear anytime from before birth to adulthood. Common signs and symptoms include the following:
- Weak and Brittle Bones: Patients with hypophosphatasia may have weak and easily fractured bones. This can lead to frequent fractures, bone pain, and difficulty with standing or walking.
- Dental Problems: Hypophosphatasia can affect tooth development, leading to abnormalities such as early tooth loss, poorly formed teeth, fragile tooth enamel, or delayed eruption of teeth.
- Short Stature: Some people with hypophosphatasia may experience slow growth, resulting in a shorter stature in comparison to their peers.
- Muscle Weakness: Weakness in the muscles, especially in the legs, can occur in some cases of hypophosphatasia, leading to difficulties with walking and physical activities.
How We Diagnose Hypophosphatasia
X-rays, MRIs, and CT scans can help diagnose HPP at all stages of life—from birth into adulthood. They can also help determine the severity of the condition based on how affected bones are.
Treatment Options for Hypophosphatasia
Individuals with hypophosphatasia should work closely with specialists such as orthopedists, dentists, and geneticists, to receive comprehensive care and support. Treatment plans should be tailored to the individual’s specific needs.
Patients with hypophosphatasia may require orthopedic care, dental care, and physical therapy to manage symptoms, prevent complications, and enhance mobility. Medications may be prescribed to alleviate pain associated with fractures or bone deformities. Orthotic devices, mobility aids, or adaptive equipment can also provide support and enhance mobility.
Genetic counseling can help individuals and families affected by hypophosphatasia understand the inheritance pattern and the risks of passing on the condition to future generations.
In severe cases, surgery may be required to address skeletal abnormalities, correct bone deformities, or manage fractures.
Enzyme Replacement Therapy (ERT)
Enzyme Replacement Therapy may be considered in severe cases. It involves administering a synthetic form of alkaline phosphatase to compensate for the deficient enzyme in the body.
Choose SMC Physicians
If you or a loved one are experiencing symptoms of hypophosphatasia, it is essential to seek medical evaluation from specialists familiar with the condition. Our Rheumatology team of experts at SMC Physicians can provide comprehensive care, tailored treatment plans, and support to manage symptoms and enhance your quality of life. Schedule an appointment today to receive personalized care for hypophosphatasia and get the support you need.
Conditions We Treat
We provide ultrasound-guided arthrocentesis (joint injections) of both steroids and gel injections such as Orthovisc and Synvisc.
We offer a state-of-the art private infusion center at each location, offering the following medications and more:
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