What are the symptoms of hypophosphatasia?


  • Bowed (curved) arms and legs.
  • Short stature.
  • In babies, failure to grow or gain weight as they should.
  • Fused skull bones.
  • Soft, weak, or deformed bones, also called rickets.
  • Wider than normal wrist and ankle bones.
  • Breathing issues due to problems with chest and rib bones.
  • Painful bones and joints.

Is hypophosphatasia a rare disease?

Hypophosphatasia (HPP) is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. Problems occur because mineralization is the process by which bones and teeth take up calcium and phosphorus required for proper hardness and strength.

What does hypophosphatasia mean?

Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth.

Is hypophosphatasia a progressive disease?

Background. Hypophosphatasia (HPP) is a chronic, progressive bone mineralization disorder caused by loss-of-function variants in the ALPL gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP).

How long do people with hypophosphatasia live?

Perinatal HPP is often fatal. Mortality among patients with perinatal or infantile HPP has ranged from 58 to 100 percent within the first year of life. But in 2015, the U.S. Food and Drug Administration (FDA) approved Strensiq (asfotase alfa), which is an alkaline phosphatase enzyme replacement therapy (ERT).

How do you 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. X-rays: X-rays can reveal bone abnormalities common in childhood HPP and severe forms of perinatal and infantile HPP types.

Can HPP be cured?

Defective mineralization means a person with the condition will have bones that are soft and vulnerable to fractures and deformities. People with HPP also experience premature tooth loss. HPP is a lifelong condition, but most types of HPP are treatable.

Is hypophosphatasia a disability?

Hypophosphatasia (perinatal and infantile onset types) automatically qualifies you for social security disability benefits under the Social Security Administration’s guidelines.

Can hypophosphatasia be cured?

Hypophosphatasia is a lifelong disease.

How many people in the US have hypophosphatasia?

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.

Is HPP an autoimmune disease?

Henoch-Schonlein purpura (HSP) is a fairly common autoimmune childhood disorder that may affect adults as well, although less frequently. Children with this condition are often initially seen with acute abdominal pain and are referred for surgical evaluation.

Does HPP make you tired?

As a multisystemic condition, HPP can affect many areas of the body, causing pain, fatigue, and brain fog.

What deficiencies cause low alkaline phosphatase?

Abstract. The precise physiological role of alkaline phosphatase is unknown, although evidence suggests it is involved in bone mineralization. Previous studies showed that serum and bone alkaline phosphatase activity is decreased during vitamin C deficiency.

Can Covid vaccine trigger HSP?

HSP has previously been reported following immunization with various vaccines, mostly within 12 weeks post vaccination [3]. The aim of this report is to highlight a possible association between COVID-19 vaccination (Pfizer‐BioNTech BNT16B2b2 mRNA vaccine) and first onset of HSP in a previously well adult.

Is low alkaline phosphatase serious?

Low levels

Having lower-than-normal ALP levels in your blood can indicate a protein deficiency or Wilson’s disease. It may also signal malnutrition, which could be caused by celiac disease or an insufficient amount of certain vitamins and minerals. Low ALP can also indicate a rare condition called hypophosphatemia.

How do you fix a low alkaline phosphatase?

If your ALP levels are low due to a nutritional deficiency, correct the underlying nutritive cause. Eat more foods rich in: Protein, such as dairy products, meat, poultry, beans, eggs, fish, and nuts and seeds [20] B vitamins, such as meat, fish, leafy vegetables, beans, grains, dairy products, and eggs [21, 22]

Can flu shot cause HSP?

Although the etiology of Henoch-Schönlein purpura (HSP) remains unclear, influenza vaccinations have been implicated as possible triggers for HSP.

Is HSP an autoimmune disease?

HSP is an autoimmune disease that is often triggered by an upper respiratory infection. Symptoms include a rash caused by bleeding under the skin, arthritis, belly pain, and kidney disease. Most children recover fully.

What should I do if my alkaline phosphatase is low?

If your alkaline phosphatase is low, you need to seek medical attention for an underlying condition. People with low alkaline phosphatase due to genetic disorders or serious medical conditions need to receive a treatment plan from their healthcare provider.

How do you fix low alkaline phosphatase?

Low alkaline phosphatase is a rare finding on a blood test. It usually results from some sort of malnutrition and is treated by correcting the underlying nutritive cause. Supplements for protein, B vitamins, vitamin C and thyroid hormones are the usual treatment for a low alkaline phosphatase.

What disease causes low alkaline phosphatase?

Low levels of ALP are less common. They may be a sign of a lack of zinc, malnutrition, pernicious anemia, thyroid disease, Wilson disease or hypophosphatasia, a rare genetic disease that affects bones and teeth. Learn more about laboratory tests, reference ranges, and understanding results.

Can Covid cause HSP?

12 Looking at both the history and laboratory investigations of this patient, having had no prior infection with the previously mentioned causative organisms, but a prior upper respiratory tract infection with COVID-19, it only suggests that COVID-19 could possibly be an HSP-triggering virus.