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Leprosy, susceptibility to, 4(LPRS4)

MedGen UID:
370866
Concept ID:
C1970254
Finding
Synonym: Leprosy 4
 
Gene (location): LTA (6p21.33)
 
Monarch Initiative: MONDO:0012595
OMIM®: 610988

Definition

Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.

Leprosy affects the skin and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Most affected individuals have areas of skin damage (cutaneous lesions) and problems with nerve function (peripheral neuropathy); however, the severity and extent of the problems vary widely. Leprosy occurs on a spectrum, in which the most severe form is called multibacillary or lepromatous, and the least severe form is called paucibacillary or tuberculoid. Patterns of signs and symptoms intermediate between these forms are sometimes called borderline forms.

Multibacillary leprosy usually involves a large number of cutaneous lesions, including both surface damage and lumps under the skin (nodules). The moist tissues that line body openings such as the eyelids and the inside of the nose and mouth (mucous membranes) can also be affected, which can lead to vision loss, destruction of nasal tissue, or impaired speech. Some affected individuals have damage to internal organs and tissues. The nerve damage that occurs in multibacillary leprosy often results in a lack of sensation in the hands and feet. Repeated injuries that go unnoticed and untreated because of this lack of sensation can lead to reabsorption of affected fingers or toes by the body, resulting in the shortening or loss of these digits.

Paucibacillary leprosy typically involves a small number of surface lesions on the skin. There is generally loss of sensation in these areas, but the other signs and symptoms that occur in multibacillary leprosy are less likely to develop in this form of the disorder.

In any form of leprosy, episodes called reactions can occur, and can lead to further nerve damage. These episodes can include reversal reactions, which involve pain and swelling of the skin lesions and the nerves in the hands and feet. People with the more severe forms of leprosy can develop a type of reaction called erythema nodosum leprosum (ENL). These episodes involve fever and painful skin nodules. In addition, painful, swollen nerves can occur. ENL can also lead to inflammation of the joints, eyes, and the testicles in men.

Leprosy has long been stigmatized because of its infectious nature and the disfigurement it can cause. This stigma can cause social and emotional problems for affected individuals. However, modern treatments can prevent leprosy from getting worse and spreading to other people. While the infection is curable, nerve and tissue damage that occurred before treatment is generally permanent. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Yang J, Kim HY, Park S, Sentissi I, Green N, Oh BK, Kim Y, Oh KH, Paek E, Park YJ, Oh IH, Lee SH
PLoS One 2022;17(4):e0267292. Epub 2022 Apr 19 doi: 10.1371/journal.pone.0267292. PMID: 35439273Free PMC Article
Verma SB, Panda S, Nenoff P, Singal A, Rudramurthy SM, Uhrlass S, Das A, Bisherwal K, Shaw D, Vasani R
Indian J Dermatol Venereol Leprol 2021 [SEASON];87(4):468-482. doi: 10.25259/IJDVL_303_20. PMID: 34219433
Mathuria JP, Srivastava GN, Sharma P, Mathuria BL, Ojha S, Katoch VM, Anupurba S
J Infect Public Health 2017 Jul-Aug;10(4):409-414. Epub 2016 Aug 2 doi: 10.1016/j.jiph.2016.06.007. PMID: 27496592

Recent clinical studies

Etiology

Anagnostou P, Montinaro F, Sazzini M, Di Vincenzo F, Destro Bisol G
J Anthropol Sci 2022 Dec 30;100:267-294. doi: 10.4436/JASS.10010. PMID: 36511799
Jabalameli N, Rajabi F, Firooz A, Rezaei N
Immunol Invest 2022 May;51(4):1087-1094. Epub 2021 Jan 26 doi: 10.1080/08820139.2021.1876086. PMID: 33494631
Dwivedi VP, Banerjee A, Das I, Saha A, Dutta M, Bhardwaj B, Biswas S, Chattopadhyay D
Microb Pathog 2019 Dec;137:103714. Epub 2019 Sep 4 doi: 10.1016/j.micpath.2019.103714. PMID: 31493502
Wang Z, Mi Z, Wang H, Sun L, Yu G, Fu X, Wang C, Bao F, Yue Z, Zhao Q, Wang N, Cheng X, Liu H, Zhang F
Clin Genet 2018 Aug;94(2):259-263. Epub 2018 Jun 10 doi: 10.1111/cge.13376. PMID: 29722023
Misch EA, Berrington WR, Vary JC Jr, Hawn TR
Microbiol Mol Biol Rev 2010 Dec;74(4):589-620. doi: 10.1128/MMBR.00025-10. PMID: 21119019Free PMC Article

Diagnosis

Moraes ACCG, da Luz RCFV, Fernandes ALM, Barbosa MXS, de Andrade LV, Armstrong ADC, de Souza CDF, do Carmo RF
BMC Infect Dis 2023 Dec 5;23(1):853. doi: 10.1186/s12879-023-08862-0. PMID: 38053036Free PMC Article
Chiang SS, Graham SM, Schaaf HS, Marais BJ, Sant'Anna CC, Sharma S, Starke JR, Triasih R, Achar J, Amanullah F, Armitage LY, Aurilio RB, Buck WC, Centis R, Chabala C, Cruz AT, Demers AM, du Preez K, Enimil A, Furin J, Garcia-Prats AJ, Gonzalez NE, Hoddinott G, Isaakidis P, Jaganath D, Kabra SK, Kampmann B, Kay A, Kitai I, Lopez-Varela E, Maleche-Obimbo E, Malaspina FM, Velásquez JN, Nuttall JJC, Oliwa JN, Andrade IO, Perez-Velez CM, Rabie H, Seddon JA, Sekadde MP, Shen A, Skrahina A, Soriano-Arandes A, Steenhoff AP, Tebruegge M, Tovar MA, Tsogt B, van der Zalm MM, Welch H, Migliori GB
Int J Tuberc Lung Dis 2023 Aug 1;27(8):584-598. doi: 10.5588/ijtld.23.0085. PMID: 37491754Free PMC Article
Mutayoba BK, Ershova J, Lyamuya E, Hoelscher M, Heinrich N, Kilale AM, Range NS, Ngowi BJ, Ntinginya NE, Mfaume SM, Nkiligi E, Doulla B, Lyimo J, Kisonga R, Kingalu A, Lema Y, Kondo Z, Pletschette M
Trop Med Int Health 2022 Oct;27(10):891-901. Epub 2022 Sep 11 doi: 10.1111/tmi.13814. PMID: 36089572Free PMC Article
Ezhilarasan D
Drug Chem Toxicol 2021 May;44(3):330-333. Epub 2019 Oct 21 doi: 10.1080/01480545.2019.1679829. PMID: 31631707
Dwivedi VP, Banerjee A, Das I, Saha A, Dutta M, Bhardwaj B, Biswas S, Chattopadhyay D
Microb Pathog 2019 Dec;137:103714. Epub 2019 Sep 4 doi: 10.1016/j.micpath.2019.103714. PMID: 31493502

Therapy

Erami M, Hashemi SJ, Raiesi O, Fattahi M, Getso MI, Momen-Heravi M, Daie Ghazvini R, Khodavaisy S, Parviz S, Mehri N, Babaei M
Infection 2023 Feb;51(1):223-230. Epub 2022 Sep 15 doi: 10.1007/s15010-022-01907-7. PMID: 36107379Free PMC Article
Mutayoba BK, Ershova J, Lyamuya E, Hoelscher M, Heinrich N, Kilale AM, Range NS, Ngowi BJ, Ntinginya NE, Mfaume SM, Nkiligi E, Doulla B, Lyimo J, Kisonga R, Kingalu A, Lema Y, Kondo Z, Pletschette M
Trop Med Int Health 2022 Oct;27(10):891-901. Epub 2022 Sep 11 doi: 10.1111/tmi.13814. PMID: 36089572Free PMC Article
Ezhilarasan D
Drug Chem Toxicol 2021 May;44(3):330-333. Epub 2019 Oct 21 doi: 10.1080/01480545.2019.1679829. PMID: 31631707
Luo Y, Kawashima A, Ishido Y, Yoshihara A, Oda K, Hiroi N, Ito T, Ishii N, Suzuki K
Int J Mol Sci 2014 Jul 21;15(7):12895-912. doi: 10.3390/ijms150712895. PMID: 25050783Free PMC Article
Grosset JH, Cole ST
Lepr Rev 2001 Dec;72(4):429-40. doi: 10.5935/0305-7518.20010051. PMID: 11826479

Prognosis

Jouet A, Braet SM, Gaudin C, Bisch G, Vasconcellos S, Epaminondas Nicacio de Oliveira do Livramento RE, Prado Palacios YY, Fontes AB, Lucena N, Rosa P, Moraes M, La K, Badalato N, Lenoir E, Ferré A, Clément M, Hasker E, Grillone SH, Abdou W, Said A, Assoumani Y, Attoumani N, Laurent Y, Cambau E, de Jong BC, Suffys PN, Supply P
EBioMedicine 2023 Jul;93:104649. Epub 2023 Jun 14 doi: 10.1016/j.ebiom.2023.104649. PMID: 37327675Free PMC Article
Aravinda A, Sood S, Chaudhry R, Kapil A, Sharma PK, Gupta S
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(3):367-371. doi: 10.25259/IJDVL_21_19. PMID: 33666031
Chauffour A, Morel F, Reibel F, Petrella S, Mayer C, Cambau E, Aubry A
Clin Microbiol Infect 2021 Nov;27(11):1601-1612. Epub 2021 Jul 13 doi: 10.1016/j.cmi.2021.07.007. PMID: 34265461
Blackwell JM, Black GF, Peacock CS, Miller EN, Sibthorpe D, Gnananandha D, Shaw JJ, Silveira F, Lins-Lainson Z, Ramos F, Collins A, Shaw MA
Philos Trans R Soc Lond B Biol Sci 1997 Sep 29;352(1359):1331-45. doi: 10.1098/rstb.1997.0118. PMID: 9355125Free PMC Article
Miller RA
Int J Lepr Other Mycobact Dis 1991 Dec;59(4):639-44. PMID: 1687045

Clinical prediction guides

Moraes ACCG, da Luz RCFV, Fernandes ALM, Barbosa MXS, de Andrade LV, Armstrong ADC, de Souza CDF, do Carmo RF
BMC Infect Dis 2023 Dec 5;23(1):853. doi: 10.1186/s12879-023-08862-0. PMID: 38053036Free PMC Article
Erami M, Hashemi SJ, Raiesi O, Fattahi M, Getso MI, Momen-Heravi M, Daie Ghazvini R, Khodavaisy S, Parviz S, Mehri N, Babaei M
Infection 2023 Feb;51(1):223-230. Epub 2022 Sep 15 doi: 10.1007/s15010-022-01907-7. PMID: 36107379Free PMC Article
Anagnostou P, Montinaro F, Sazzini M, Di Vincenzo F, Destro Bisol G
J Anthropol Sci 2022 Dec 30;100:267-294. doi: 10.4436/JASS.10010. PMID: 36511799
Jabalameli N, Rajabi F, Firooz A, Rezaei N
Immunol Invest 2022 May;51(4):1087-1094. Epub 2021 Jan 26 doi: 10.1080/08820139.2021.1876086. PMID: 33494631
Lee JH, An HK, Sohn MG, Kivela P, Oh S
Int J Mol Sci 2020 Aug 19;21(17) doi: 10.3390/ijms21175953. PMID: 32824985Free PMC Article

Recent systematic reviews

Varshney D, Singh S, Sinha E, Mohanty KK, Kumar S, Kumar Barik S, Patil SA, Katara P
Cytokine 2022 Apr;152:155791. Epub 2022 Feb 11 doi: 10.1016/j.cyto.2021.155791. PMID: 35158257
Chauffour A, Morel F, Reibel F, Petrella S, Mayer C, Cambau E, Aubry A
Clin Microbiol Infect 2021 Nov;27(11):1601-1612. Epub 2021 Jul 13 doi: 10.1016/j.cmi.2021.07.007. PMID: 34265461
Niitsuma ENA, Bueno IC, Arantes EO, Carvalho APM, Xavier Junior GF, Fernandes GDR, Lana FCF
Rev Bras Epidemiol 2021;24:e210039. Epub 2021 Jun 30 doi: 10.1590/1980-549720210039. PMID: 34231829
Onyedum CC, Alobu I, Ukwaja KN
PLoS One 2017;12(7):e0180996. Epub 2017 Jul 13 doi: 10.1371/journal.pone.0180996. PMID: 28704459Free PMC Article
Lukoye D, Ssengooba W, Musisi K, Kasule GW, Cobelens FG, Joloba M, Gomez GB
BMC Public Health 2015 Mar 25;15:291. doi: 10.1186/s12889-015-1614-8. PMID: 25880829Free PMC Article

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