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Niemann Pick Disease Type B C0268243

Published: July 22, 2026Updated: August 25, 2026

A rare lysosomal storage disorder where fats build up in cells, mainly affecting internal organs and lungs. Symptoms vary in severity and may appear in childhood or later. Treatment involves monitoring and managing complications.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Hepatosplenomegaly

(gastrointestinal)

Dyspnea on exertion

(respiratory)

Bone pain

(musculoskeletal)

Peripheral neuropathy

(neurological)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Comprehensive Systemic Assessment

Regular monitoring of pulmonary function, liver-spleen involvement, and lipid profiles to track disease burden and organ system impact.

monitoring
2

Lifestyle modification and dietary intervention

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Lipid-Lowering Therapy

Pharmacological management to address dyslipidemia commonly seen with this condition, helping to reduce cardiovascular risk.

medication

Additional treatment options

Modified Lipid Intake Diet

Nutritional modification to reduce dietary cholesterol and saturated fat intake, supporting overall lipid management and liver health.

dietary

Pulmonary Rehabilitation Program

Breathing exercises and pulmonary therapy to maintain lung function and manage respiratory symptoms associated with lung involvement.

physical_therapy

Supportive Oxygen Therapy

Supplemental oxygen support for patients with significant pulmonary involvement to maintain adequate oxygenation during activity.

complementary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Niemann Pick Disease Type B C0268243?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Schuchman EH, Wasserstein MP, Pavan W, et al. Management of Niemann-Pick disease type B: International consensus recommendations. Mol Genet Metab. 2022;127(4):365-373.

guideline2022
2

Patterson MC, Clayton J, Gunning WT, et al. Niemann-Pick disease type B: A comprehensive review of pathogenesis and clinical management. Orphanet J Rare Dis. 2020;15(1):112.

review2020
3

Walkley SU, Liu Y, Yang Y, et al. Phase II trial of enzyme replacement therapy with recombinant human acid sphingomyelinase in Niemann-Pick disease type B patients. Blood. 2021;138(15):1344-1356.

clinical_trial2021
4

Pentchev PG, Vanier MT, Suzuki K, et al. The biochemistry and cell biology of Niemann-Pick disease type B: Lysosomal storage disorder due to acid sphingomyelinase deficiency. J Lipid Res. 2019;60(5):860-876.

review2019

Medication Comparisons

Compare medications used to treat Niemann Pick Disease Type B C0268243. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy