Hypophosphatasia.
Not all broken bones are caused by a fall and not all chronic aches are a sign of ageing. For a certain group of people it could be due to a rare inherited disease called hypophosphatasia (HPP) which prevents bones and teeth from hardening. The disease is sometimes confused with common boner diseases and can go undiagnosed for years causing patients to endure years of pain, multiple fractures and disability. A study published in the journal Frontiers in Endocrinology now urges healthcare professionals to take the signs and symptoms seriously as early diagnosis would have a major impact on patient outcomes.
The study led by Dr. Martin Ku ma from Comenius University, Slovakia and senior author Dr. Roland Kocijan from the Ludwig Boltzmann Institute of Osteology, Vienna, examined 49 cases of hypophosphatasia from Central and Eastern Europe. The team of researchers looked into one of the largest cohorts of the rare disease by evaluating symptoms, complications, diagnosis and treatment patterns to try to understand the impact of HPP throughout various ages.
Hypophosphatasia is a rare inherited condition that affects the ALPL gene which reduces the activity of tissue non-specific alkaline phosphatase (TNSALP) an enzyme needed to mineralise bones and teeth to become less active. This enzyme is needed to make bones hard and strong so when this enzyme is not enough then bones become soft and weak which makes them more prone to fractures, deformities and dental issues. While it is estimated that only about three cases of HPP occur in 100000 people experts believe many cases are undiagnosed due to symptoms being confused with other musculoskeletal disorders and low levels of alkaline phosphatase (ALP) being missed on routine checks.
The study found that 73.5 per cent of patients experienced chronic musculoskeletal pain making it the most common symptom including 44 per cent who had fractures and 17 per cent who had bone deformities reported. And almost one in four had lost teeth before their 16th birthday which is one of the first symptoms of the disease.
Researchers also discovered that children with HPP tend to suffer from severe bone mineralisation defects and that adults are more likely to have persistent pain which may be unexplained for years. As per previous studies the disease progresses silently for a median of 5.7 years between the time of onset of symptoms and diagnosis. It is important to note that HPP can also impact the lungs, kidneys and muscles leaving over 70 per cent of patients needing regular painkillers indicating the high physical burden and the need for improved pain management.
The team of scientists who led the study determined that low levels of ALP are not recognised in 97 per cent of patients. Scientists stress the need for patients with persistently low ALP and similar symptoms to be genetically tested for ALPL mutations in order to confirm the diagnosis and direct patient management. While hypophosphatasia is rare it can be a life changing condition if a bone pain persists or you have repeated fractures. Although access to enzyme replacement therapy is still limited continued research brings new hope that patients will be diagnosed sooner and get the care they need before it is too late.
Disclaimer: This article is for informational purposes only and is not medical advice. Always consult a qualified healthcare professional for diagnosis, testing, treatment or personalized care.
