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Leprosy, susceptibility to, 2(LPRS2)

MedGen UID:
334455
Concept ID:
C1843632
Disease or Syndrome
Synonyms: Leprosy 2; LPRS2
 
Monarch Initiative: MONDO:0011860
OMIM®: 607572

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.

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.

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.

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

Veeraraghavan B, Pragasam AK, Ray P, Kapil A, Nagaraj S, Perumal SPB, Saigal K, Thomas M, Gupta M, Rongsen-Chandola T, Jinka DR, Shastri J, Alexander AP, Koshy RM, De A, Singh A, Evelyn Ebenezer S, Dutta S, Bavdekar A, More D, Sanghavi S, Nayakanti RR, Jacob JJ, Amladi A, Anandan S, Abirami BS, Bakthavatchalam YD, Sethuvel DPM, John J, Kang G
J Infect Dis 2021 Nov 23;224(Supple 5):S502-S516. doi: 10.1093/infdis/jiab144. PMID: 35238369Free PMC Article
Adejumo OA, Olusola-Faleye B, Adepoju VA, Gidado M, Onoh MO, Adegboye O, Abdur-Razzaq H, Moronfolu O, Shogbamimu Y
Trans R Soc Trop Med Hyg 2020 Jun 1;114(6):415-423. doi: 10.1093/trstmh/trz126. PMID: 31925446
Okethwangu D, Birungi D, Biribawa C, Kwesiga B, Turyahabwe S, Ario AR, Zhu BP
BMC Infect Dis 2019 May 7;19(1):387. doi: 10.1186/s12879-019-4014-3. PMID: 31064332Free PMC Article

Recent clinical studies

Etiology

Gardini G, Gregori N, Matteelli A, Castelli F
Curr Opin Infect Dis 2022 Apr 1;35(2):79-87. doi: 10.1097/QCO.0000000000000820. PMID: 35067521Free PMC Article
Dzamko NL
Adv Neurobiol 2017;14:123-143. doi: 10.1007/978-3-319-49969-7_7. PMID: 28353282
Wang Z, Sun Y, Fu X, Yu G, Wang C, Bao F, Yue Z, Li J, Sun L, Irwanto A, Yu Y, Chen M, Mi Z, Wang H, Huai P, Li Y, Du T, Yu W, Xia Y, Xiao H, You J, Li J, Yang Q, Wang N, Shang P, Niu G, Chi X, Wang X, Cao J, Cheng X, Liu H, Liu J, Zhang F
Nat Commun 2016 Dec 15;7:13760. doi: 10.1038/ncomms13760. PMID: 27976721Free PMC Article
Liu H, Irwanto A, Fu X, Yu G, Yu Y, Sun Y, Wang C, Wang Z, Okada Y, Low H, Li Y, Liany H, Chen M, Bao F, Li J, You J, Zhang Q, Liu J, Chu T, Andiappan AK, Wang N, Niu G, Liu D, Yu X, Zhang L, Tian H, Zhou G, Rotzschke O, Chen S, Zhang X, Liu J, Zhang F
Nat Genet 2015 Mar;47(3):267-71. Epub 2015 Feb 2 doi: 10.1038/ng.3212. PMID: 25642632
Zhang X
J Dermatol Sci 2012 May;66(2):89-97. Epub 2012 Mar 5 doi: 10.1016/j.jdermsci.2012.02.017. PMID: 22480995

Diagnosis

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
Gardini G, Gregori N, Matteelli A, Castelli F
Curr Opin Infect Dis 2022 Apr 1;35(2):79-87. doi: 10.1097/QCO.0000000000000820. PMID: 35067521Free PMC Article
Pandhi D, Chhabra N
Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):739-49. doi: 10.4103/0378-6323.120719. PMID: 24177605
Zhang X
J Dermatol Sci 2012 May;66(2):89-97. Epub 2012 Mar 5 doi: 10.1016/j.jdermsci.2012.02.017. PMID: 22480995
Scollard DM, Adams LB, Gillis TP, Krahenbuhl JL, Truman RW, Williams DL
Clin Microbiol Rev 2006 Apr;19(2):338-81. doi: 10.1128/CMR.19.2.338-381.2006. PMID: 16614253Free PMC Article

Therapy

Gardini G, Gregori N, Matteelli A, Castelli F
Curr Opin Infect Dis 2022 Apr 1;35(2):79-87. doi: 10.1097/QCO.0000000000000820. PMID: 35067521Free PMC Article
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
Walsh DS, Portaels F, Meyers WM
Curr Opin Infect Dis 2010 Oct;23(5):445-55. doi: 10.1097/QCO.0b013e32833c2209. PMID: 20581668
Scollard DM, Adams LB, Gillis TP, Krahenbuhl JL, Truman RW, Williams DL
Clin Microbiol Rev 2006 Apr;19(2):338-81. doi: 10.1128/CMR.19.2.338-381.2006. PMID: 16614253Free PMC Article
Engers H, Morel CM
Nat Rev Microbiol 2003 Nov;1(2):94-5. doi: 10.1038/nrmicro764. PMID: 15035038

Prognosis

Gardini G, Gregori N, Matteelli A, Castelli F
Curr Opin Infect Dis 2022 Apr 1;35(2):79-87. doi: 10.1097/QCO.0000000000000820. PMID: 35067521Free PMC Article
Richard AC, Ferdinand JR, Meylan F, Hayes ET, Gabay O, Siegel RM
J Leukoc Biol 2015 Sep;98(3):333-45. Epub 2015 Jul 17 doi: 10.1189/jlb.3RI0315-095R. PMID: 26188076Free PMC Article
Pandhi D, Chhabra N
Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):739-49. doi: 10.4103/0378-6323.120719. PMID: 24177605
Gormus BJ, Meyers WM
Expert Rev Vaccines 2003 Dec;2(6):791-804. doi: 10.1586/14760584.2.6.791. PMID: 14711362
Miller RA
Int J Lepr Other Mycobact Dis 1991 Dec;59(4):639-44. PMID: 1687045

Clinical prediction guides

Dallmann-Sauer M, Xu YZ, da Costa ALF, Tao S, Gomes TA, Prata RBDS, Correa-Macedo W, Manry J, Alcaïs A, Abel L, Cobat A, Fava VM, Pinheiro RO, Lara FA, Probst CM, Mira MT, Schurr E
PLoS Pathog 2023 Mar;19(3):e1011260. Epub 2023 Mar 27 doi: 10.1371/journal.ppat.1011260. PMID: 36972292Free PMC Article
Dallmann-Sauer M, Correa-Macedo W, Schurr E
Mamm Genome 2018 Aug;29(7-8):523-538. Epub 2018 Aug 16 doi: 10.1007/s00335-018-9765-4. PMID: 30116885Free PMC Article
Pandhi D, Chhabra N
Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):739-49. doi: 10.4103/0378-6323.120719. PMID: 24177605
Yang Q, Liu H, Low HQ, Wang H, Yu Y, Fu X, Yu G, Chen M, Yan X, Chen S, Huang W, Liu J, Zhang F
PLoS One 2012;7(1):e29747. Epub 2012 Jan 6 doi: 10.1371/journal.pone.0029747. PMID: 22238647Free PMC Article
Remus N, Alcaïs A, Abel L
Immunol Res 2003;28(2):109-29. doi: 10.1385/IR:28:2:109. PMID: 14610288

Recent systematic reviews

Antony BS, Nagarajan C, Devaraj DV, Subbaraj GK
Int J Mycobacteriol 2024 Apr 1;13(2):115-125. Epub 2024 Jun 15 doi: 10.4103/ijmy.ijmy_43_24. PMID: 38916380
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
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
Li S, Wang X, Zhao Y, Yang J, Cui T, Zhao ZJ, Chen Y, Zheng Z
Front Immunol 2021;12:592841. Epub 2021 Feb 25 doi: 10.3389/fimmu.2021.592841. PMID: 33717071Free 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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