Refsum disease is an exceptionally rare genetic disorder affecting peroxisome function, with fewer than 1 in 10 million individuals affected in the United States. This autosomal recessive condition arises from a deficiency in phytanoyl-coenzyme A hydroxylase, crucial for metabolizing phytanic acid. Symptoms, including night blindness and anosmia, vary and are often accompanied by peripheral neuropathy, ataxia, and hearing or cardiac issues. Timely diagnosis is challenging due to the slow progression, frequently taking more than a decade from symptom onset. Dietary phytanic acid restriction and supportive therapies constitute treatment.Participants in this activity explore the pathophysiology, genetics, and clinical manifestations of Refsum disease, facilitating its recognition and evaluation. Through this course, healthcare professionals gain insights into developing tailored treatment approaches. Interprofessional collaboration is emphasized, enhancing comprehensive patient care by fostering communication among specialists, optimizing diagnostic accuracy, and ensuring coordinated management strategies.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/28308
- Start Date: 2023-09-01 05:00:00
- End Date: 2023-09-01 05:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.0 hours
Nursing: 1.0 hours
Pharmacy: 1.0 hours - MOC Credit Details: ABS - 1.0 Point; Credit Type(s): Accredited CME (ABS)
ABPATH - 1.0 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABTS - 1.0 Point; Credit Type(s): Accredited CME (ABTS)
ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.0 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP)
ABOHNS - 1.0 Point; Credit Type(s): Self-Assessment (ABOHNS)
ABTS - 1.0 Point; Credit Type(s): Self-Assessment (ABTS) - 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: Cardiothoracic, Cardiovascular Disease, Dermatopathology, Developmental-Behavioral Pediatrics, General Pediatrics, General Surgery, GI (incl. Liver, Pancreas, Bilary), Internal Medicine, Molecular Genetic Pathology, Nephrology, Neuropathology (incl. Neuromuscular), Neurotology, Pediatric Cardiology, Pediatric Gastroenterology, Pediatric Nephrology, Pediatric Neurology