Main therapeutic and rehabilitation actions in patients with congenital insensitivity to pain
Keywords:
Congenital insensitivity to Pain, Hereditary Sensory and Motor Neuropathy, Etiology, Neurological Rehabilitation, Therapeutics, Disease PreventionAbstract
Introduction: congenital insensitivity to pain is a hereditary whose main characteristic is absolute analgesia to pain.
Objective: to describe the main existing therapeutic actions for patients with congenital insensitivity to pain in its diverse subtypes.
Method: a total of 30 scientific articles were reviewed, which met the inclusion criteria. Databases such as Medline (PubMEd) and SciELO were consulted. All studies with limited or insufficient quality of evidence, or those in which full-text information was not available, were excluded.
Development: at present, studies related to the use of bisphosphonates and minimal scale surgical interventions for the reduction of bone complications of the disease and the use of opioid receptor antagonists such as naloxone with the aim of reducing analgesia in these patients stand out. It also highlights research related to nerve growth factor in conjunction with the expression of the high affinity tyrosinkinase receptor for this factor, which produces a relative improvement with respect to the absolute analgesia that is evidenced in this disease.
Conclusions: although the mechanisms by which it is established are not yet fully clarified, there is strong scientific evidence that supports a central role of genetics in the etiology of the disease. There is no highly effective therapeutic alternative in the current medical literature; that is why the basic role of these actions is based on prevention, education and interdisciplinary treatment.
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12. Abdella MH, Andrei L, Okorokov, Cox J, Bras JT, Hill MN, et al. Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. Br J Anaesth [Internet]. 2019 [citado 14/01/2020]: 123(2) [aprox. 14 p.]. PMCID: PMC6676009 PMID: 30929760 Disponible en: https://doi.org/10.1016/j.bja.2019.02.019
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17. Destegul D, Kocaöz F, Sarı AS. Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome. Agri. [Internet]. 2019 [citado 20/01/2020];31(4): [aprox. 12 p.]. Disponible en: https://doi.org/10.14744/agri.2019.91297
18. Wang WB, Cao YJ, Lyu SS, Zuo RT, Zhang ZL, Kang QL. Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). J. Gene. [Internet]. 2018 [citado 13/01/2020]; 679(2): [aprox. 15 p.]. Disponible en: https://doi.org/10.1016/j.gene.2018.09.009.
19. Kayani B, Sewell MD, Platinum J, Olivier A, Briggs TWR, Eastwood DM. Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV). Eur J Paediatr Neurol [Internet]. 2017 [citado 22/01/2020]; 21(2): [aprox. 16 p.]. PMID: 27637569 Disponible en: https://doi.org/10.1016/j.ejpn.2016.08.009.
20. Wang R, Liu Y, Zhou YY, Wang JY, Xu ZJ, Chen SY, et al. Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of the literature. World J Clin Cases [Internet]. 2018; [citado 21/01/2020]; 6(14): [aprox. 18 p.]. PMCID: PMC6264989 PMID: 30510952. Disponible en: https://doi.org/10.12998/wjcc.v6.i14.836.
21. Schwartzlow C, Kazamel M. Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification. Curr Neurol Neurosci Rep. [Internet]. 2019 [citado 14/01/2020] 19(8): [aprox. 18 p.]. PMID: 31222456. Disponible en: https://doi.org/10.1007/s11910-019-0974-3.
22. Dib-Hajj SD, Waxman SG. Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics. Annu Rev Neurosci. [Internet]. 2019 [citado 13/01/2020]; 42(8): [aprox. 17 p.]. PMID: 30702961. Disponible en: https://doi.org/10.1146/annurev-neuro-070918-050144.
23. Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, et al. A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain. [Internet]. 2018 [citado 19/01/2020]; 141(2): [aprox. 20 p.]. PMID:29253101; PMCID: PMC5837393. Disponible en: https://doi.org/10.1093/brain/awx326.
24. Nabiyev V, Kara A, Aksoy MC. Multidisciplinary assessment of congenital insensitivity to pain syndrome. Childs Nerv Syst. [Internet]. 2016 [citado 19/01/2020];32(9): [aprox. 16 p.]. PMID: 27000762. Disponible en: https://doi.org/10.1007/s00381-016-3059-5.
25. Ravichandra KS, Kandregula CR, Koya S, Lakhotia D. Congenital Insensitivity to Pain and Anhydrosis: Diagnostic and Therapeutic Dilemmas revisited. Int J Clin Pediatr Dent. [Internet]. 2015 [citado 20/01/2020]; 8(1): [aprox. 18 p.].. Disponible en: https://doi.org/10.5005/jp-journals-10005-1288.
2. Delniotis I, Leidinger B. A 10-year follow-up of asymptomatic Charcot hip joints caused by Congenital Insensitivity to Pain with Anhidrosis syndrome with failure of any surgical reconstructive treatment. J Surg Case Rep. [Internet]. 2019 [citado 20/01/2020];18(2):[aprox. 14 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537910/
3. Romero Guillén LP, Pavia Vega S, Saquelares Rodriguez B, Hurtado Reyes IC, Rojas Zarco EM, Sánchez Tapia MA, et al. Síndrome de Insensibilidad Congénita al Dolor: Sufriendo sin dolor. Rev. Anest. Mex [Internet]. 2017 [citado 12/01/2020]; 29(3): [aprox. 12 p.]. Disponible en: http://www.scielo.org.mx/pdf/am/v29n3/2448-8771-am-29-03-42.pdf.
4. Nagasako EM, Oaklander AL, Dworkin RH. Congenital insensitivity to pain: an update. Pain [Internet]. 2003 [citado 22/01/2020]: 20(5): [aprox. 10 p.]. Disponible en: https://doi.org/10.1016/S0304-3959(02)00482-7.
5. Ruíz Mejía O, Oribio Gallegos JA, Pimentel Rangel J, Valle De Lascurain G. Analgesia congénita: reporte de dos casos. Act Ortop Mex [Internet]. 2018 [citado 23/01/2020]: 32(2): [aprox. 11 p.]. Disponible en: https://www.medigraphic.com/pdfs/ortope/or-2018/or182j.pdf
6. Schon K, Parker A, Woods CG. Congenital Insensitivity to Pain Overview. GeneReviews [Internet]. 2018 [citado 20/01/2020];10(2): [aprox. 12 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK481553/#_NBK481553_pubdet_
7. Pérez López LM, Cabrera González M, Gutiérrez de la Iglesia D, Ricart S, Knörr Giménez G. Update Review and Clinica Presentation in Congenital Insensitivity to Pain and Anhidrosis. Hindawi Jour [Internet]. 2016 [citado 14/01/2020]: 30(5) [aprox. 19 p.]. Disponible en: https://doi.org/10.1155/2015/589852.
8. Albuja Echeverría BO, Alvear Lozanoa MB, Ordóñez Paredes CP. Insensibilidad congénita al dolor con anhidrosis, diagnóstico clínico, evolución y complicaciones. Arch Argent Pediatr [Internet]. 2014 [citado 20/01/2020]: 112(5) [aprox. 19 p.]. Disponible en: http://dx.doi.org/10.5546/aap.2014.e200
9. Zhang S, Malik Sharif S, Chen YC, Valente EM, Ahmed M, Sheridan E, et al. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. J Med Genet. [Internet]. 2016 [citado 19/01/2020]: 53 (8) [aprox. 19 p.] Disponible en: http://dx.doi.org/10.1136/jmedgenet-2015-103646.
10. Mifsud M, Spiteri M, Abela M. The Orthopedic Manifestations of Congenital Insensitivity to Pain: A Population-based Study. Indian J Orthop. [Internet]. 2019 [citado 18/01/2020]: 53 (5). [aprox. 20 p.]. PMCID: PMC6699213 PMID: 31488938 Disponible en: https://doi.org/10.4103/ortho.IJOrtho_378_18.
11. Shields SD, Deng L, Resse RM, Dourado M, Tao J, Foreman O, et al. Insensitivity to Pain upon Adult-Onset Deletion of Nav1.7 or Its Blockade with Selective Inhibitors. J Neurosci [Internet]. 2018 [citado 14/01/2020]: 38(47) [aprox. 19 p.]. PMCID: PMC6596201 PMID: 30301756 Disponible en: https://doi.org/10.1523/JNEUROSCI.1049-18.2018.
12. Abdella MH, Andrei L, Okorokov, Cox J, Bras JT, Hill MN, et al. Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. Br J Anaesth [Internet]. 2019 [citado 14/01/2020]: 123(2) [aprox. 14 p.]. PMCID: PMC6676009 PMID: 30929760 Disponible en: https://doi.org/10.1016/j.bja.2019.02.019
13. Cutillas Ruiz R, Sanz Ayán P, Mora Girón M, Martí Ciruelos R. Insensibilidad congénita al dolor: abordaje rehabilitador. Rehabilitación [Internet]. 2018 [citado 22/01/2020]: 20(4) [aprox. 15 p.]. Disponible en: https://doi.org/10.1016/S0048-7120(08)73609-0.
14. Navarrete Enríquez AD, Panzeri Piras M, Moctezuma Ramírez L. Síndrome de insensibilidad congénita al dolor y anhidrosis: caso clínico. Rev Hosp JuaMex [Internet]. 2017 [citado 20/01/2020];84(1): [aprox. 9 p.]. Disponible en: https://www.medigraphic.com/pdfs/juarez/ju-2017/ju171i.pdf
15. Pérez Cruz N, Martínez Torres MC, Díaz Mato I. Canalopatías, un novedoso enfoque en la fisiopatología del dolor. Rev Cubana Pediatr [Internet]. 2017 [citado 15/01/2020];89(3): [aprox. 12 p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312017000300011&lng=es.
16. Adam M, Ardinger H, Pagon R , Wallace S. Molecular Genetics: Lora JH Bean and Karen Stephens. Anne Amemiya, Genetic Counseling. [Internet]. 2018 [citado 21/01/2020];34(3): [aprox. 14 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1116/?report=reader
17. Destegul D, Kocaöz F, Sarı AS. Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome. Agri. [Internet]. 2019 [citado 20/01/2020];31(4): [aprox. 12 p.]. Disponible en: https://doi.org/10.14744/agri.2019.91297
18. Wang WB, Cao YJ, Lyu SS, Zuo RT, Zhang ZL, Kang QL. Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). J. Gene. [Internet]. 2018 [citado 13/01/2020]; 679(2): [aprox. 15 p.]. Disponible en: https://doi.org/10.1016/j.gene.2018.09.009.
19. Kayani B, Sewell MD, Platinum J, Olivier A, Briggs TWR, Eastwood DM. Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV). Eur J Paediatr Neurol [Internet]. 2017 [citado 22/01/2020]; 21(2): [aprox. 16 p.]. PMID: 27637569 Disponible en: https://doi.org/10.1016/j.ejpn.2016.08.009.
20. Wang R, Liu Y, Zhou YY, Wang JY, Xu ZJ, Chen SY, et al. Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of the literature. World J Clin Cases [Internet]. 2018; [citado 21/01/2020]; 6(14): [aprox. 18 p.]. PMCID: PMC6264989 PMID: 30510952. Disponible en: https://doi.org/10.12998/wjcc.v6.i14.836.
21. Schwartzlow C, Kazamel M. Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification. Curr Neurol Neurosci Rep. [Internet]. 2019 [citado 14/01/2020] 19(8): [aprox. 18 p.]. PMID: 31222456. Disponible en: https://doi.org/10.1007/s11910-019-0974-3.
22. Dib-Hajj SD, Waxman SG. Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics. Annu Rev Neurosci. [Internet]. 2019 [citado 13/01/2020]; 42(8): [aprox. 17 p.]. PMID: 30702961. Disponible en: https://doi.org/10.1146/annurev-neuro-070918-050144.
23. Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, et al. A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain. [Internet]. 2018 [citado 19/01/2020]; 141(2): [aprox. 20 p.]. PMID:29253101; PMCID: PMC5837393. Disponible en: https://doi.org/10.1093/brain/awx326.
24. Nabiyev V, Kara A, Aksoy MC. Multidisciplinary assessment of congenital insensitivity to pain syndrome. Childs Nerv Syst. [Internet]. 2016 [citado 19/01/2020];32(9): [aprox. 16 p.]. PMID: 27000762. Disponible en: https://doi.org/10.1007/s00381-016-3059-5.
25. Ravichandra KS, Kandregula CR, Koya S, Lakhotia D. Congenital Insensitivity to Pain and Anhydrosis: Diagnostic and Therapeutic Dilemmas revisited. Int J Clin Pediatr Dent. [Internet]. 2015 [citado 20/01/2020]; 8(1): [aprox. 18 p.].. Disponible en: https://doi.org/10.5005/jp-journals-10005-1288.
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Published
2020-09-13
How to Cite
1.
Niebla-Gómez NJ, Rivero-Morey RJ, García-Alfonso de Armas TL. Main therapeutic and rehabilitation actions in patients with congenital insensitivity to pain. Univ. Méd. Pinareña [Internet]. 2020 Sep. 13 [cited 2025 Jun. 24];17(3):e522. Available from: https://revgaleno.sld.cu/index.php/ump/article/view/522
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Review article
