Adrenoleukodystrophy is a rare genetic peroxisomal disorder characterized by the abnormal metabolism of very long-chain fatty acids (VLCFAs) due to mutations in the ABCD1 gene. This leads to the accumulation of VLCFAs, particularly affecting the brain, spinal cord, adrenal glands, and testes. The condition is classified into various subtypes based on inheritance patterns, clinical presentation, age of onset, and affected organs. Diagnosis typically involves clinical suspicion prompted by neurological symptoms and biochemical testing showing elevated VLCFAs. Genetic confirmation through DNA analysis of ABCD1 gene mutations is crucial for a definitive diagnosis.Management focuses on early detection through newborn screening programs in some regions, followed by regular monitoring of VLCFA levels. Symptoms typically include progressive neurological dysfunction and adrenal insufficiency, which is managed with glucocorticoid and mineralocorticoid replacement therapies. Hematopoietic stem cell transplantation (HSCT) remains the primary therapeutic option for early-stage adrenoleukodystrophy, offering the best chance to halt disease progression and improve outcomes. Despite these interventions, the prognosis is generally poor, with most patients developing severe neurological disabilities and a shortened lifespan. This activity reviews the pathophysiology, clinical manifestations, and genetic basis of adrenoleukodystrophy and provides clinicians with a comprehensive understanding of the condition. This activity also highlights the crucial role of the multidisciplinary healthcare team in recognizing the symptoms of progressive neurological dysfunction and adrenal insufficiency through early diagnosis and in becoming familiar with current management strategies. Additionally, this activity will offer clinicians insights into the therapeutic potential of HSCT for managing early-stage adrenoleukodystrophy.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/17243
- Start Date: 2023-09-01 05:00:00
- End Date: 2023-09-01 05:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.5 hours
Nursing: 1.5 hours
Pharmacy: 1.5 hours - MOC Credit Details: ABS - 1.5 Point; Credit Type(s): Accredited CME (ABS)
ABPATH - 1.5 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABIM - 1.5 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.5 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.5 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP) - Commercial Support: No
- Activity Type: Enduring Material
- CME Finder Type: Online Learning
- Fee to Participate: Variable
- Measured Outcome: Learner Knowledge, Learner/Team Competence
- Provider Ship: Directly Provided
- Registration: Open to all
- Specialty: Adolescent Medicine, Clinical Pathology, Endocrine, Endocrinology, Diabetes, and Metabolism, General Pediatrics, General Surgery, Molecular Genetic Pathology, Pediatric Endocrinology