Doença óssea rara segue sem diagnóstico e mantém dor crônica em silêncio

August 3, 2026 report

by Sanjukta Mondal, Medical Xpress

edited by Sadie Harley, reviewed by Robert Egan

This article has been reviewed according to Science X's editorial process and policies. Editors have highlighted the following attributes while ensuring the content's credibility:

Teeth and bones are among the hardest structures in the human body, but certain inherited conditions can rob them of that strength. One of them is hypophosphatasia (HPP), a rare, lifelong genetic bone disorder that disrupts the development of bones and teeth, leaving them unusually soft and fragile. A recent study set out to determine how common HPP is across Central and Eastern Europe and how it presents in patients.

After reviewing the medical records of patients in five European countries with clinically and genetically confirmed HPP, researchers found that the disorder causes a high burden of symptoms affecting many aspects of life. More than 70% of patients experienced constant bone and muscle pain, and in most cases, the pain was so severe that patients had to take multiple types of pain medication to get through their daily lives.

One of the most concerning findings was that, despite living with a debilitating genetic disorder, only one of the 34 patients in the study was receiving asfotase alfa, an enzyme replacement therapy (ERT) that targets HPP and is currently the only approved treatment for the disease.

The findings are published in Frontiers in Endocrinology.

Mapping HPP across Europe

HPP is a potentially fatal inherited disorder caused by mutations in the ALPL gene, which produces an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme is essential for the mineralization of bones and teeth—the process that hardens them by depositing minerals into their structure. More than 450 disease-causing variants of the ALPL gene have been identified so far.

As a result, HPP can range from mild to life-threatening, affecting both children and adults. It can cause weak bones, growth and mobility problems, premature loss of baby teeth and, in severe cases, breathing difficulties and seizures in infants.

Where diagnosis often breaks down

Because of the rarity of the disorder, it often goes undetected or is misdiagnosed, putting patients at risk without the care they need. Regional data can shed light on where patients fall through the cracks—because of missed diagnoses, limited access to treatment or too few specialists to turn to. To fill these gaps, researchers in this study focused on Central and Eastern Europe.

The team conducted a retrospective, multicenter study, reviewing existing medical records from five countries: Slovakia, Austria, Slovenia, Latvia and Hungary.

They began with 49 people suspected of having HPP, all of whom had a confirmed mutation in the ALPL gene and sufficient information for the researchers to study them properly. After excluding anyone with missing data or other diagnoses, the final group comprised 34 patients: 14 male and 20 female.

From the medical records, the researchers extracted demographic details and tracked chronic pain, fractures, bone deformities and dental problems such as early tooth loss. They also looked for laboratory tests showing low ALP levels, the hallmark sign of HPP, along with X-rays and bone density scans to assess how strong or fragile the patients' bones were.

Symptoms shift with age

The study found that HPP presents very differently depending on when symptoms first appear. Although chronic musculoskeletal pain was the most common symptom overall, patients whose disease began in childhood were more likely to develop bone deformities, experience frequent fractures and lose their teeth early.

In contrast, those whose symptoms appeared in adulthood were more likely to experience persistent pain and joint problems. Overall, 44% of patients had fractures, 26% experienced premature tooth loss and 18% developed bone deformities.

The disease's impact was not limited to the skeleton. Nearly 30% of patients experienced respiratory complications, including recurrent pneumonia, while more than 10% developed kidney stones or calcium deposits in the kidneys.

Nearly every patient, 97%, had low blood levels of the alkaline phosphatase (ALP) enzyme, the telltale sign of HPP. The researchers noted that this red flag is often missed in everyday clinical practice, as shown by the underuse of targeted treatment among participants.

The findings highlight a stark gap in awareness of and access to rare-disease therapies that needs to be closed urgently to ensure patients receive accurate diagnoses and timely treatment.

Written for you by our author Sanjukta Mondal, edited by Sadie Harley, and fact-checked and reviewed by Robert Egan—this article is the result of careful human work. We rely on readers like you to keep independent science journalism alive. If this reporting matters to you, please consider a donation (especially monthly). You'll get an ad-free account as a thank-you.

M. Kužma et al, Prevalence of clinical manifestations among patients with hypophosphatasia in Central and Eastern European countries, Frontiers in Endocrinology (2026). DOI: 10.3389/fendo.2026.1892714

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