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Leprosy, susceptibility to, 3(LPRS3)

MedGen UID:
368500
Concept ID:
C1968668
Finding
Synonym: Leprosy 3
 
Gene (location): TLR2 (4q31.3)
 
Monarch Initiative: MONDO:0009518
OMIM®: 246300

Definition

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.

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.

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.

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Abnormality of the immune system
MedGen UID:
867388
Concept ID:
C4021753
Pathologic Function
An abnormality of the immune system.

Professional guidelines

PubMed

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
Cambau E, Chauffour-Nevejans A, Tejmar-Kolar L, Matsuoka M, Jarlier V
PLoS Negl Trop Dis 2012;6(7):e1739. Epub 2012 Jul 31 doi: 10.1371/journal.pntd.0001739. PMID: 22860144Free PMC Article
Singh P, Katoch VM
J Commun Dis 2006 Mar;38(3):216-29. PMID: 17373354

Recent clinical studies

Etiology

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
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
White C, Franco-Paredes C
Clin Microbiol Rev 2015 Jan;28(1):80-94. doi: 10.1128/CMR.00079-13. PMID: 25567223Free PMC Article
Joyce MP
Mem Inst Oswaldo Cruz 2012 Dec;107 Suppl 1:17-21. doi: 10.1590/s0074-02762012000900004. PMID: 23283448

Diagnosis

van Wyk SS, Nliwasa M, Lu FW, Lan CC, Seddon JA, Hoddinott G, Viljoen L, Günther G, Ruswa N, Shah NS, Claassens M
JMIR Public Health Surveill 2024 Jun 26;10:e46137. doi: 10.2196/46137. PMID: 38924777Free PMC Article
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
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
Bellad R, Nagamoti M, Sharma P, Chauhan DS
Trop Doct 2022 Jul;52(3):386-390. Epub 2022 Apr 18 doi: 10.1177/00494755221080584. PMID: 35435077
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

Prognosis

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
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
White C, Franco-Paredes C
Clin Microbiol Rev 2015 Jan;28(1):80-94. doi: 10.1128/CMR.00079-13. PMID: 25567223Free PMC Article
Zhang FR, Liu H, Irwanto A, Fu XA, Li Y, Yu GQ, Yu YX, Chen MF, Low HQ, Li JH, Bao FF, Foo JN, Bei JX, Jia XM, Liu J, Liany H, Wang N, Niu GY, Wang ZZ, Shi BQ, Tian HQ, Liu HX, Ma SS, Zhou Y, You JB, Yang Q, Wang C, Chu TS, Liu DC, Yu XL, Sun YH, Ning Y, Wei ZH, Chen SL, Chen XC, Zhang ZX, Liu YX, Pulit SL, Wu WB, Zheng ZY, Yang RD, Long H, Liu ZS, Wang JQ, Li M, Zhang LH, Wang H, Wang LM, Xiao P, Li JL, Huang ZM, Huang JX, Li Z, Liu J, Xiong L, Yang J, Wang XD, Yu DB, Lu XM, Zhou GZ, Yan LB, Shen JP, Zhang GC, Zeng YX, de Bakker PI, Chen SM, Liu JJ
N Engl J Med 2013 Oct 24;369(17):1620-8. doi: 10.1056/NEJMoa1213096. PMID: 24152261
Mira MT, Alcaïs A, Nguyen VT, Moraes MO, Di Flumeri C, Vu HT, Mai CP, Nguyen TH, Nguyen NB, Pham XK, Sarno EN, Alter A, Montpetit A, Moraes ME, Moraes JR, Doré C, Gallant CJ, Lepage P, Verner A, Van De Vosse E, Hudson TJ, Abel L, Schurr E
Nature 2004 Feb 12;427(6975):636-40. Epub 2004 Jan 25 doi: 10.1038/nature02326. PMID: 14737177

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
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
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
Joyce MP
Mem Inst Oswaldo Cruz 2012 Dec;107 Suppl 1:17-21. doi: 10.1590/s0074-02762012000900004. PMID: 23283448

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
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
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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