Niemann-Pick disease: symptoms, diagnostics, treatment
DOI:
https://doi.org/10.15574/SP.2022.126.68Keywords:
Niemann-Pick disease, symptoms, laboratory diagnostics, childrenAbstract
Among all inborn errors of metabolism lysosomal storage diseases occupy an important place, because they have a diverse clinical symptoms, manifest at different ages and are disguised as different diseases, which makes the diagnosis of these diseases quite difficult and long-term. Niemann-Pick disease, a rare inherited neurodegenerative disease caused by a disruption of intracellular lipid metabolism, is one such disease. The clinical manifestations of this disease are quite nonspecific, including neurological, visceral, or psychiatric symptoms, and can appear both in childhood and adulthood, which complicates diagnosis. Although this disease belongs to orphan diseases, doctors of many specialties may encounter such a patient - general practitioners, pediatrician, neonatologist, neurologist, gastroenterologist, hepatologist, hematologist and psychiatrist. Due to the specifics of the clinic, insufficient awareness of this disease, referral to a medical geneticist is late and patients remain unrecognized for years.
The purpose - to provide up-to-date data on Niemann-Pick type C disease, clinical manifestations, diagnostic difficulties, and information on disease treatment options to increase awareness and awareness of the disease among physicians of various specialties.
The article discusses the features of clinical manifestations, basic information about the possibilities of laboratory diagnostics, tools for early detection of the disease and achievements in the treatment of the disease. Management of patients with Niemann-Pick disease is complex, requires a multidisciplinary approach, and can only slow the progression of the disease. That is why early diagnosis of the disease is critically important, because specific treatment started as early as possible gives a chance to slow down the development of complications. Spreading knowledge about this disease will shorten the path to diagnosis and improve the provision of medical care to patients.
No conflict of interests was declared by the authors.
References
Berezenko VS, Krat VV, Zadoroznaja TD, Andrusishina IM. (2021). Peculiarities of clinical course of Wilson's disease in children. Modern Pediatrics. Ukraine. 4 (116): 6-12. https://doi.org/10.15574/SP.2021.116.6
Bonnot O, Klünemann HH, Velten C, Torres Martin JV, Walterfang M. (2019). Systematic review of psychiatric signs in Niemann-Pick disease type C. The world journal of biological psychiatry: the official journal of the World Federation of Societies of Biological Psychiatry. 20 (4): 320-332. https://doi.org/10.1080/15622975.2018.1441548; PMid:29457916
Burlina A. (2014). Niemann-Pick disease type C: introduction and main clinical features. Journal of neurology. 261; 2 (2): S525-S527. https://doi.org/10.1007/s00415-014-7382-z; PMid:25145889 PMCid:PMC4141151
Cariati I, Masuelli L, Bei R, Tancredi V, Frank C, D'Arcangelo G. (2021). Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment. International journal of molecular sciences. 22 (12): 6600. https://doi.org/10.3390/ijms22126600; PMid:34202978 PMCid:PMC8234817
Di Lazzaro V, Marano M, Florio L, De Santis S. (2016). Niemann-Pick type C: focus on the adolescent/adult onset form. The International journal of neuroscience. 126 (11): 963-971. https://doi.org/10.3109/00207454.2016.1161623; PMid:26998855
Erickson RP. (2007). A first therapy for Niemann-Pick C. The Lancet. Neurology. 6 (9): 748-749. https://doi.org/10.1016/S1474-4422(07)70198-9; PMid:17706552
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S et al. (2018). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet journal of rare diseases. 13 (1): 50. https://doi.org/10.1186/s13023-018-0785-7; PMid:29625568 PMCid:PMC5889539
Höller A, Albrecht U, Baumgartner Sigl S, Zöggeler T, Ramoser G, Bernar B, Karall D, Scholl-Bürgi S. (2021). Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C. Mol. Genet. Metab. Rep. 27: 100723. https://doi.org/10.1016/j.ymgmr.2021.100723; PMid:33598405 PMCid:PMC7868989
Jiang X, Sidhu R, Mydock-McGrane L et al. (2016). Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Sci Transl Med. 8: 337ra363. https://doi.org/10.1126/scitranslmed.aaf2326
Jiang X, Sidhu R, Porter FD et al. (2011). A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res. 52: 1435-1445. https://doi.org/10.1194/jlr.D015735; PMid:21518695 PMCid:PMC3122908
Marín T, Contreras P, Castro JF, Chamorro D, Balboa E, Bosch-Morató M, Muñoz FJ, Alvarez AR, Zanlungo S. (2014). Vitamin E dietary supplementation improves neurological symptoms and decreases c-Abl/p73 activation in Niemann-Pick C mice. Nutrients. 6: 3000-3017. https://doi.org/10.3390/nu6083000; PMid:25079853 PMCid:PMC4145291
Mazzacuva F, Mills P, Mills K et al. (2016). Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. FEBS Lett. 590: 1651-1662. https://doi.org/10.1002/1873-3468.12196; PMid:27139891 PMCid:PMC5089630
Mengel E, Klunemann HH, Lourenc¸o CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. (2013). Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 8:166. https://doi.org/10.1186/1750-1172-8-166; PMid:24135395 PMCid:PMC3853996
Palmieri M, Cariati I, Scimeca M, Pallone G, Bonanno E, Tancredi V, D'Arcangelo G, Frank C. (2019). Effects of short-term aerobic exercise in a mouse model of Niemann-Pick type C disease on synaptic and muscle plasticity. Annali dell'Istituto superiore di sanita. 55 (4): 330-337. https://doi.org/10.4415/ANN_19_04_05.
Patterson M. Niemann-Pick Disease Type C. (2020, Dec 10). In: Adam MP, Mirzaa GM, Pagon RA et al, editors. GeneReviews®. URL: https://www.ncbi.nlm.nih.gov/books/NBK1296/.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P et al. (2017). Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurology. Clinical practice. 7 (6): 499-511. https://doi.org/10.1212/CPJ.0000000000000399; PMid:29431164 PMCid:PMC5800709
Patterson MC, Mengel E, Wijburg FA et al. (2013). Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 8: 12. https://doi.org/10.1186/1750-1172-8-12; PMid:23324478 PMCid:PMC3558399
Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H et al. (2010). Long-term miglustat therapy in children with Niemann-Pick disease type C. Journal of child neurology. 25 (3): 300-305. https://doi.org/10.1177/0883073809344222; PMid:19822772
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. (2007). Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. The Lancet. Neurology. 6 (9): 765-772. https://doi.org/10.1016/S1474-4422(07)70194-1; PMid:17689147
Pineda M, Walterfang M, Patterson MC. (2018). Miglustat in Niemann-Pick disease type C patients: a review. Orphanet journal of rare diseases. 13 (1): 140. https://doi.org/10.1186/s13023-018-0844-0; PMid:30111334 PMCid:PMC6094874
Santos-Lozano A, Villamandos García D, Sanchis-Gomar F, Fiuza-Luces C, Pareja-Galeano H, Garatachea N, Nogales Gadea G, Lucia A. (2015). Niemann-Pick disease treatment: a systematic review of clinical trials. Annals of translational medicine. 3 (22): 360. https://doi.org/10.3978/j.issn.2305-5839.2015.12.04.
Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V et al. (2009). The clinical spectrum of fetal Niemann-Pick type C. American journal of medical genetics. 149A (3); A: 446-450. https://doi.org/10.1002/ajmg.a.32642; PMid:19206179
Stampfer M, Theiss S, Amraoui Y et al. (2013). Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis. 8: 35. https://doi.org/10.1186/1750-1172-8-35; PMid:23433426 PMCid:PMC3649939
Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I. (2014). Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. European journal of paediatric neurology: official journal of the European Paediatric Neurology Society. 18 (1): 75-78. https://doi.org/10.1016/j.ejpn.2013.08.002; PMid:24119781
Vanier MT, Latour P. (2015). Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. Methods in cell biology. 126: 357-375. https://doi.org/10.1016/bs.mcb.2014.10.028; PMid:25665455
Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M et al. (2012). Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology. 78 (20): 1560-1567. https://doi.org/10.1212/WNL.0b013e3182563b82; PMid:22517094
Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ et al. (2014). Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. Journal of inherited metabolic disease. 37 (1): 93-101. https://doi.org/10.1007/s10545-013-9626-y; PMid:23793527 PMCid:PMC3889645
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