『#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia』のカバーアート

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

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Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later in life. With symptoms spanning multiple body systems and varying across the lifespan, how can clinicians recognize when these seemingly disconnected findings may point to HPP? In the first episode of our three-part series on hypophosphatasia, we are joined by genetic counselor Amy Patterson to explore the clinical spectrum and diagnosis of HPP. Amy explains what happens biologically in HPP, why traditional age-based classifications do not always capture its variability, and how the condition may present from the prenatal period through adulthood. We also discuss the importance of persistently low alkaline phosphatase (ALP), including why results must be interpreted using age- and sex-appropriate reference ranges. Amy reviews the additional laboratory findings, medical and dental histories, imaging, physical examination, and molecular testing that may contribute to a diagnosis. She also highlights common misdiagnoses and the clinical clues that should prompt healthcare providers to consider HPP. Episode Discussion Topics What hypophosphatasia is and how impaired mineralization affects the bodyThe perinatal, infantile, childhood, adult, and odonto forms of HPPPrenatal and infantile presentations of severe HPPClinical and dental signs in childrenFractures, chronic pain, fatigue, weakness, and dental concerns in adultsHow manifestations may change throughout a person’s lifetimeVariability among relatives with the same familial ALPL variantsCommon diagnostic delays and misdiagnosesDistinguishing HPP from other causes of rickets and skeletal abnormalitiesDifferentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgiaThe importance of persistently low ALP and appropriate reference rangesAlternative explanations for a low ALP resultThe HPP International Working GroupThe roles of laboratory testing, radiographs, dental records, and medical historyWhen molecular testing of the ALPL gene may be appropriateWhether HPP can be diagnosed without an identified pathogenic or likely pathogenic ALPL variant About the Guest Amy Patterson, MS, CGC, is a licensed, board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She works with pediatric and adult patients in the general genetics clinic and the Greenberg Center for Skeletal Dysplasias, including individuals and families affected by hypophosphatasia. About the Series This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management. This series is sponsored by Alexion. The views expressed by the host and guests are their own. Resources Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP.Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056.Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438.Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10.Brandi ML, Khan AA, Rush ET, et al. The challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449.Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals. Relevant DNA Today Episodes #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition.#301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy.#348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how ...
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