NPC can present like many different diseases, so accurate diagnosis and early intervention are critical.^1,2

Early recognition of Niemann-Pick disease type C (NPC) is essential:

NPC is an ultra-rare, relentlessly progressive, and inherited disease. Its variable symptom presentation makes it difficult to diagnose.^1-3

Niemann-Pick disease type C is a lysosomal storage disease (LSD) caused by mutations in either the NPC1 or NPC2 genes that occurs in approximately 1 in 100,000 live births. NPC is a progressive disease that is irreversible and ultimately fatal.³

Early recognition and diagnosis can be pivotal, as this may allow more time to access appropriate treatment.^1,2

Clinical presentation of NPC is heterogeneous, with variable symptom presentations. Some features are more often seen in younger patients, while others occur mainly in adolescents and adults.^2,4

Symptoms are²:

Neurological

Visceral

Psychiatric

As a rare and variable condition, NPC can be difficult to identify and accurately diagnose.⁴ Progression can be rapid with dramatic effects on everyday life or can develop slowly, making it difficult to notice. There is added complexity in diagnosis because NPC shares many symptoms with other more common diseases, such as^1,2,5,6:

• Dyspraxia
• Cerebral palsy

• Parkinson’s disease
• Psychiatric disorders

Niemann-Pick disease type C mechanism of disease

NPC is a lysosomal storage disease (LSD) inherited in an autosomal recessive manner that results in dysfunction of lysosomal proteins that are required for proper lipid metabolism and transport.^1,3

Mutations in the NPC1 or NPC2 genes result in dysfunctional or nonfunctional NPC proteins.³

Nonfunctional and dysfunctional NPC proteins result in impaired trafficking and accumulation of lipids including unesterified cholesterol and various sphingolipids in the late endosome and lysosomes.^3,4

This accumulation leads to impaired lysosomal function and dysfunction in the brain, liver, and spleen.^2,3

Recognizing symptom patterns is pivotal to timely diagnosis¹

The key to timely and accurate diagnosis of Niemann-Pick disease type C is identifying patterns of symptoms. Symptom presentation varies as patients age and generally affects movement, posture, mood, and memory.¹

Childhood NPC frequently impacts visceral organs^1,2
Neonatal (<2 months)	Most commonly presents as cholestatic jaundice and hepatosplenomegaly
Early infantile (2 months to <2 years)	Commonly characterized by developmental milestone delay and hepatosplenomegaly
Late infantile (2 to <6 years)	Commonly characterized by disturbed gait or clumsiness, and vertical supranuclear saccade palsy
Juvenile (6 to 15 years)	Most commonly presents as cognitive impairment, coordination problems, seizures, and vertical supranuclear saccade palsy
NPC progression in adults is mostly neurological¹
Adolescent/adult (>15 years)	Commonly presents with cognitive impairment and psychiatric illness, and vertical supranuclear saccade palsy

Symptom combinations illustrating the heterogeneity of NPC presentation might include¹:

A history of jaundice at birth and slow or slurred speech

Learning difficulties and a seizure

Unsteady walking and abnormal posture

Identifying NPC as soon as possible may allow more management options and can help preserve quality of life for longer. Early diagnosis could be vital to implementation of proper comprehensive management.¹

Screening tools that may lead to faster diagnosis include¹:

Taking a complete medical history

Performing a clinical examination

Testing for NPC-specific blood and genetic markers

Learn more about diagnosis and testing >

References: 1. Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease Type C. Orphanet J Rare Dis. 2018;13(1):50. doi:10.1186/s13023-018-0785-7 2. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5(16):1-18. doi:10.1186/1750-1172-5-16 3. Mengel E, Patterson MC, Chladek M, et al. Impacts and burden of Niemann pick type-C: a patient and caregiver perspective. Orphanet J Rare Dis. 2021;16(1):493. doi:10.1186/s13023-021-02105-8 4. Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106(3):330-344. doi:10.1016/j.ymgme.2012.03.012 5. Lad M, Thomas RH, Anderson K, Griffiths TD. Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder. Pract Neurol. 2019;19(5):420-423. doi:10.1136/practneurol-2019-002236 6. Wu M, Ceponiene R, Bayram E, Litvan I. Two patients with Niemann Pick disease type C diagnosed in the seventh decade of life. Mov Disord Clin Pract. 2020;7(8):961-964. doi:10.1002/mdc3.13085

This website is intended for US residents only. The information provided is for educational purposes only and is not intended to replace discussions with a healthcare provider. Some patient images imagined with AI.

NPC can present like many different diseases, so accurate diagnosis and early intervention are critical.1,2

Early recognition of Niemann-Pick disease type C (NPC) is essential:

NPC is an ultra-rare, relentlessly progressive, and inherited disease. Its variable symptom presentation makes it difficult to diagnose.1-3

Niemann-Pick disease type C mechanism of disease

Recognizing symptom patterns is pivotal to timely diagnosis1

Childhood NPC frequently impacts visceral organs1,2

NPC progression in adults is mostly neurological1

Symptom combinations illustrating the heterogeneity of NPC presentation might include1:

Screening tools that may lead to faster diagnosis include1:

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NPC can present like many different diseases, so accurate diagnosis and early intervention are critical.^1,2

NPC is an ultra-rare, relentlessly progressive, and inherited disease. Its variable symptom presentation makes it difficult to diagnose.^1-3

Recognizing symptom patterns is pivotal to timely diagnosis¹

Childhood NPC frequently impacts visceral organs^1,2

NPC progression in adults is mostly neurological¹

Symptom combinations illustrating the heterogeneity of NPC presentation might include¹:

Screening tools that may lead to faster diagnosis include¹: