Hypophosphatasia: A Rare 라이브 바카라사이트 Often Overlooked—Even with Signs Like Short Stature and Frequent Fractures

[by Yu, Suin] Earlier this year, a neonate presented with respiratory failure immediately postpartum and was promptly admitted to Gangnam Severance Hospital. The infant was subsequently diagnosed with hypophosphatasia (라이브 바카라사이트). At the time of admission, endotracheal intubation was performed by the medical team to stabilize the critical condition. However, establishing a definitive diagnosis required more than three months. Fortunately, AstraZeneca Korea, which supplies a treatment for 라이브 바카라사이트, identified the patient through a screening program targeting Korean medical institutions, raising suspicion of the disease. The diagnosis was subsequently confirmed through genetic analysis. The infant is currently receiving treatment and is reported to be in stable condition.

Hypophosphatasia (라이브 바카라사이트) is a rare condition that remains unfamiliar even among healthcare professionals. Consequently, numerous patients endure severe complications or succumb to the disease without a proper diagnosis. Recently, <THE BIO conducted an interview with Dr. Eric T. Rush, a leading expert in the clinical management of 라이브 바카라사이트 worldwide, to explore the current understanding of the disease and its treatment landscape.

◇‘Hereditary rare metabolic 라이브 바카라사이트’ impacting the entire body…Symptoms include pain, growth delay, fractures, and more

Dr. Rush, whom we met at the Oakwood Premier COEX Center in Seoul on May 29, traveled to Korea for the first time with the goal of raising awareness of 라이브 바카라사이트. During his visit, he participated in the ‘2025 Spring Scientific Congress of the Korean Society for Bone and Mineral Research (SSBH 2025),’ where he delivered a lecture on 라이브 바카라사이트 and provided Korean healthcare professionals with insights into the current state of disease diagnosis and treatment.

Rush is a clinical geneticist affiliated with the University of Kansas School of Medicine and Children’s Mercy Hospital in the United States. Over the past 15 years, his work has concentrated on skeletal dysplasia, including 라이브 바카라사이트, osteogenesis imperfecta, and X-linked hypophosphatemia. In the last 4 to 5 years, he has devoted his efforts to advancing research aimed at improving diagnosis accuracy through genomics.

Rush explained that 라이브 바카라사이트 is a rare inherited metabolic disorder arising from a deficiency in the activity of ‘alkaline phosphatase (ALP)’. This enzyme deficiency leads to impaired bone mineralization, muscular weakness, and reduced neurological function. ALP is produced by the ‘ALPL gene,’ and the disease primarily results from mutations in this gene.

Unlike typical skeletal disorders, 라이브 바카라사이트 affects the entire body, distinguishing it from general bone diseases by its impact on multiple physiological systems in addition to bone deformities. Among metabolic diseases, 라이브 바카라사이트 is notable for its broad spectrum of clinical symptoms and highly variable patient characteristics. When the disease manifests in infancy, it carries a severe prognosis, with approximately half (50%) of affected infants dying before the age of one. However, there are also cases in which patients survive into adulthood, exhibiting a range of clinical features. In childhood, common symptoms include rickets, bone and joint pain, impaired motor function, and growth retardation. In adulthood, chronic pain and recurrent fractures are the predominant manifestations.

“라이브 바카라사이트 was first recognized in the 1940s. It was a Canadian pediatrician who documented the disease through a case study of a patient he treated, but for more than 60 years, it largely went unnoticed,” explained Rush. “There were virtually no institutions or treatments capable of diagnosing it. Prior to the development of ‘Strensiq (asfotase alfa)’, there were no treatments that targeted the disease itself, only ‘symptomatic treatment’ was available to relieve the symptoms.”

‘Strensiq,’ an ‘enzyme replacement therapy (ERT),’ compensates for the congenital deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) in 라이브 바카라사이트 patients and promotes normal bone mineralization. According to main clinical data, 76% of 라이브 바카라사이트 patients requiring mechanical ventilation survived following treatment with Strensiq, and 75% of these survivors were able to discontinue ventilatory support. The survival rate of infants with 라이브 바카라사이트 increased by 95% at one year of age (compared to 42% in untreated cases) and reached 84% by the age of five (compared to 27% without treatment). In addition, Strensiq demonstrated significant improvements in skeletal symptoms and functional recovery outcomes.

“Since the late 2000s, there has been a growing idea of ​​‘what if we replace the deficient enzyme,’ which sparked research into enzyme replacement therapy (ERT), and this research ultimately led to the launch of clinical trials for Strensiq,” Rush explained. “Strensiq was first approved in the Un라이브 바카라사이트ed States in 2015, and 라이브 바카라사이트s use has now spread to several countries.”

“Currently, Strensiq is the only drug that has been officially approved for the treatment of 라이브 바카라사이트,” Rush further commented. “In terms of clinical outcomes, including improved survival rates and therapeutic effects, it represents a level of advancement that is incomparable to supportive care options available in the past.”

Rush emphasized that Strensiq is a treatment that can improve patients’ qual라이브 바카라사이트y of life beyond merely prolonging survival. “Patients who previously faced significant challenges in simply surviving are now demonstrating signs of functional recovery that go beyond survival,” he stated. “Of course, these improvements are not immediate, they are gradual and take time to manifest.”

“Nevertheless, clear clinical progress has been documented, such as 라이브 바카라사이트 who previously required ventilatory support now breathing independently, and 라이브 바카라사이트 who had experienced growth stagnation regaining their growth trajectories and seeing improvements in their overall physical function and health,” Rush further added.

◇Diagnosis is often delayed until the 40s and 50s…‘Reimbursement restrictions’ for Korean adult 라이브 바카라사이트

In Korea, Strensiq is ‘reimbursed’ for patients diagnosed with 라이브 바카라사이트 who initiate treatment before the age of 19. However, due to delayed diagnoses or initiation of treatment in adulthood, many patients are ineligible for these benefits. Consequently, there is a pressing need to promote early diagnosis and expand treatment accessibility. Currently approximately 30 patients across all age groups, from infants to adults, have been diagnosed with 라이브 바카라사이트 in Korea. Of these, only three patients are receiving Strensiq therapy under conditions that qualify for reimbursement.

A significant challenge is the low level of awareness about the disease, both among the general public and healthcare professionals, which often leads to delayed diagnoses. Given the rarity of the condition, clinical experience with 라이브 바카라사이트 is limited, and the symptoms are frequently nonspecific. As a result, the disease is often misdiagnosed as other conditions, such as osteoporosis, arthritis, rickets, and cerebral palsy.

Additionally, the lack of systematic screening and diagnostic processes for patients with suspected 라이브 바카라사이트 has left many individuals untreated. Although the precise prevalence of 라이브 바카라사이트 is currently unknown, it is estimated to affect approximately one in every 5,000 to 6,000 people.

Delayed diagnosis of 라이브 바카라사이트 is also a significant concern in the United States. Rush explained that delayed diagnosis is especially prevalent among adult patients. “Among patients diagnosed with 라이브 바카라사이트 in their 40s and 50s, many have already experienced recurrent fractures and pain during childhood,” he remarked. “In the United States, if it can be established that the disease began in childhood, it is classified as ‘juvenile-onset’ and can be managed with Strensiq treatment.”

“Patients who receive a delayed diagnosis frequently already suffer from physical damage or chronic pain that is difficult to reverse. Therefore, early diagnosis and prompt initiation of treatment are crucial factors that directly influence the quality of life of patients with 라이브 바카라사이트,” he further emphasized.

Rush stated that there is considerable variation in the identification of patients with 라이브 바카라사이트 across different countries, depending on the level of awareness of the disease. “Personally, I never encountered 라이브 바카라사이트 during my medical school education and only became familiar with it after graduation,” he noted. “At present, medical professionals are actively educating one another and sharing information. My visit to Korea is part of these ongoing efforts to increase awareness of 라이브 바카라사이트 among Korean healthcare providers.”

◇Recognizing symptoms such as ‘low ALP levels’ and ‘early loss of primary teeth’&라이브 바카라사이트llip;A multidisciplinary approach is crucial

Rush underscored the importance of raising awareness of 라이브 바카라사이트 as a critical step in improving diagnostic rates and expanding treatment opportunities. He particularly stressed that medical professionals across all specialties must be informed about the clinical characteristics of 라이브 바카라사이트, given the systemic nature of the disease and the diverse ways in which the symptoms can present throughout the body.

Rush identified several hallmark features of 라이브 바카라사이트, including low ALP levels relative to age, diagnoses of rickets, early loss of primary teeth before the age of five, growth retardation, fractures, and pain. “We need to consider the possibility that patients with 라이브 바카라사이트 may be among those who have been diagnosed with rickets,” Rush said. “Because the causes of rickets are diverse and the overall number of patients is relatively small, it is prudent to remain open to the possibility that some of these patients may have 라이브 바카라사이트.”

“The premature loss of baby teeth before the age of five can be a crucial diagnostic clue. In patients with 라이브 바카라사이트, there are instances where primary teeth are lost before age five, and sometimes as early as immediately after their first birthday,” Ruch further explained. “What is particularly distinctive in 라이브 바카라사이트 is that primary teeth are shed without root resorption, which differs from what typically occurs.”

“In normal cases, teeth are lost only after their roots have been absorbed and shortened. However, in 라이브 바카라사이트, primary teeth are shed with the roots fully intact,” he remarked. “In fact, there have been cases where dental professionals have recognized these symptoms, suspected 라이브 바카라사이트, and subsequently made the diagnosis.”

However, Rush cautioned that while low ALP levels are a characteristic feature of 라이브 바카라사이트, they are not definitive on their own. He explained that differential diagnosis is essential, as low ALP levels can also result from factors such as poor nutritional status or impaired liver function.

“For instance, in patients with 라이브 바카라사이트, vitamin B6 levels often rise in tandem with low ALP levels. Therefore, when low ALP is accompanied by elevated vitamin B6, the suspicion of 라이브 바카라사이트 is further strengthened,” Rush noted. “The diagnostic accuracy of screening can be increased by genetic testing to detect mutations in the ALPL gene. By integrating biochemical markers with genetic information, clinicians can achieve a more accurate diagnosis.”

Rush also highlighted the potential of prenatal ultrasound in facilitating early diagnosis of 라이브 바카라사이트. In fact, there was a case in Japan where 라이브 바카라사이트 was diagnosed in the fetal stage, and treatment was initiated immediately after birth.

“Although prenatal treatment technology has not yet reached the level of allowing intervention before birth, it is encouraging that diagnosis can be made during the prenatal period. Currently, efforts are underway to diagnoses as much as possible during the perinatal period,” he further stated. “Even if this early window is missed, it is crucial to ensure early diagnosis during infancy or childhood. Otherwise, there is a risk of repeating the situation where the 라이브 바카라사이트 goes unnoticed until adulthood.”

Rush also emphasized the importance of a ‘multidisciplinary system’ in the management of 라이브 바카라사이트. In the United States, most initial treatment starts with family physicians or pediatricians, but even in the U.S., there are very few cases where primary care providers are aware of 라이브 바카라사이트.

“In the case of rare 라이브 바카라사이트s, it is essential to establish a system where various relevant departments recognize the 라이브 바카라사이트 and collaborate effectively,” Rush explained. “Since it can be challenging for individual clinicians to gather all the information and establish a diagnosis independently, it is very helpful when other departments first suspect the 라이브 바카라사이트 and then refer patients to specialists.”

In the United States, active educational initiatives are already underway across various medical specialties. Efforts include delivering lectures on bone metabolism, bone health, and rare bone 라이브 바카라사이트s through symposiums and academic conferences, alongside establishing clear pathways for all patients through interprofessional networking and collaboration among healthcare providers.

“Building on this structure, we are establishing a rare 라이브 바카라사이트 treatment team that collaborates with genetic specialists in a range of disciplines, including rheumatology, orthopedics, dentistry, and rehabilitation medicine. This approach is helping to create a solid foundation for accurately connecting patients with the right care,” Rush commented.

“Patients actively seeking information plays a significant role in increasing diagnostic rates, and patient advocacy groups are equally important,” he further noted. “In the United States, there is a patient association known as ‘Soft Bones’, which is making substantial contributions to patient support and improving the treatment landscape by raising awareness of 라이브 바카라사이트, providing information, and collaborating with the medical community.”

Rush also emphasized the importance of tailoring 라이브 바카라사이트 treatment to each patient’s individual situation. Since the symptoms, severity, time of onset, and overall impact of the disease vary for every patient, the treatment goals must also be personalized.

He also suggested that a ‘genomics’-based approach could play an important role in the future. Since 라이브 바카라사이트 is a genetic disease, if a family history is established, genetic testing for all family members can be a crucial diagnostic tool. If one patient is diagnosed, there is a high possibility that there are family members who are either mild cases or potential carriers.

“We anticipate that this approach will allow for more personalized diagnostic and treatment strategies, as well as technologies to predict prognosis and treatment response,” Rush said. “At present, Strensiq is the only available treatment, but I believe that in the future, new therapies w라이브 바카라사이트h different mechanisms and formulations will be developed, thereby broadening the scope of treatment options,” he added.