What is infantile hypophosphatasia?
Disease definition. A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
What are the symptoms of hypophosphatasia?
Signs and Symptoms of Hypophosphatasia
- Short stature with bowed legs or knock knees.
- Decreased mobility.
- Skeletal malformations.
- Bone and joint pain.
- Enlarged wrist or ankle joints.
- Abnormal skull shape.
- Losing baby teeth earlier than usual.
What causes hypophosphatasia?
Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene . This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth.
How is hypophosphatasia diagnosis?
HPP is diagnosed by identifying its symptoms and complications beginning with a detailed patient history. HPP signs are revealed by a thorough clinical examination, and supported by routine x-rays and various laboratory tests including biochemical studies.
Is there a cure for hypophosphatasia?
Supportive treatment is important for HPP patients, including mechanical ventilation, accurate fracture treatment, physical therapy, dental monitoring, and follow-up care to avoid subsequent problems. A causal enzyme therapy replacement with asfotase-alfa was approved by the Food and Drug Administration (FDA) in 2015.
Is hypophosphatasia a disability?
Hypophosphatasia (perinatal and infantile onset types) is a disabling condition on the Compassionate Allowance List, which qualifies an individual for an expedited approval process.
What is congenital hypophosphatasia?
Congenital hypophosphatasia is absence or low levels of serum alkaline phosphatase due to mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Because serum alkaline phosphatase is absent or decreased, calcium is not diffusely deposited in bones, causing low bone density and hypercalcemia.
How many babies are born with hypophosphatasia?
Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. Milder cases, such as those that appear in childhood or adulthood, probably occur more frequently. Hypophosphatasia has been reported worldwide in people of various ethnic backgrounds.
What type of doctor treats hypophosphatasia?
Patients may initially present to orthopedists, neurologists, nephrologists, neonatologists, pulmonologists, dentists, endocrinologists, rheumatologists and others before an accurate diagnosis is obtained, making it important for many specialists to become familiar with key hypophosphatasia warning signs and …
Is hypophosphatasia dominant or recessive?
The severe forms of hypophosphatasia that appear early in life are inherited in an autosomal recessive pattern . Autosomal recessive inheritance means that two copies of the gene in each cell are altered.
Does hypophosphatasia qualify for disability?
Hypophosphatasia (perinatal and infantile onset types) automatically qualifies you for social security disability benefits under the Social Security Administration’s guidelines.
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