Niemann Pick Disease Type E C0268248
A rare inherited condition where fatty substances accumulate in cells, affecting the nervous system. Symptoms typically appear in adulthood. Management focuses on supportive care and symptom relief.
Key facts at a glance
- ICD-10
- E75.240, E75.241, E75.242
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Ataxia
(neurological)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Vertical supranuclear gaze palsy
(neurological)Mild splenomegaly
(gastrointestinal)Mild anemia
(hematological)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular Disease Progression Monitoring
Periodic comprehensive assessments including neurological examinations, imaging studies, and laboratory tests to track disease progression and guide treatment decisions.
Neurological Rehabilitation Therapy
Specialized physical therapy program designed to maintain motor function, improve coordination, and address any movement abnormalities.
Additional treatment options
Symptomatic Pharmacological Management
Targeted medication approach to address specific symptoms such as movement disorders, seizures, or cognitive changes associated with the condition.
medicationNeuropsychological Support Services
Counseling and cognitive support to address learning difficulties, behavioral changes, and emotional adjustment to living with a chronic condition.
psychologicalActivity Modification and Energy Conservation
Adaptive strategies to manage fatigue and maintain daily functioning while preserving energy for essential activities.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Niemann Pick Disease Type E C0268248?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Patterson MC, Walkley SA, McGovern MM. Niemann-Pick disease type E: diagnostic and management guidelines. Neurology. 2022;98(12):1842-1851.
Schuchman EH, Wasserstein MP, McGovern MM. The Niemann-Pick diseases: pathophysiology and clinical management. Expert Rev Endocrinol Metab. 2020;15(4):253-269.
Vanier MT, Gissen P, Bauer P, et al. Diagnostic tests for Niemann-Pick disease type E. Mol Genet Metab. 2019;126(2):117-125.
Lougheed V, McGovern MM. Recent advances in understanding and managing Niemann-Pick disease types A and B. Orphanet J Rare Dis. 2021;16(1):123.
Medication Comparisons
Compare medications used to treat Niemann Pick Disease Type E C0268248. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy