Niemann Pick Disease Type C2 C1843366
A rarer genetic form of Niemann-Pick disease caused by NPC2 gene mutations. Similar fat accumulation occurs but typically progresses differently. Management involves supportive treatments.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Splenomegaly
(hematologic)Hepatomegaly
(hepatobiliary)Jaundice
(integumentary)Peripheral neuropathy
(neurological)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
Miglustat therapy
Glucosylceramide synthase inhibitor that crosses the blood-brain barrier to reduce glycolipid storage in visceral and neurological tissues in Niemann-Pick type C2.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory function monitoring
Regular pulmonary assessment given the high risk of respiratory complications in type C2, including sleep studies and lung function testing.
Additional treatment options
Hepatic nutritional support
Specialized nutritional support addressing liver involvement and malabsorption, with attention to fat-soluble vitamin supplementation.
dietaryChest physiotherapy and mobility support
Respiratory physiotherapy combined with progressive mobility exercises to maintain lung function and prevent contractures.
physical_therapyFamily-centered psychosocial intervention
Comprehensive psychological support addressing progressive nature of disease, including grief counseling and coping strategy development for families.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Niemann Pick Disease Type C2 C1843366?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy