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Leprosy, susceptibility to, 5(LPRS5)

MedGen UID:
442551
Concept ID:
C2750733
Finding
Synonym: Leprosy 5
 
Gene (location): TLR1 (4p14)
 
Monarch Initiative: MONDO:0013185
OMIM®: 613223

Definition

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.

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.

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]

Professional guidelines

PubMed

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
Lukoye D, Katabazi FA, Musisi K, Kateete DP, Asiimwe BB, Okee M, Joloba ML, Cobelens FG
Antimicrob Agents Chemother 2014 Jul;58(7):3853-9. Epub 2014 Apr 28 doi: 10.1128/AAC.02338-13. PMID: 24777100Free PMC Article
Singh P, Katoch VM
J Commun Dis 2006 Mar;38(3):216-29. PMID: 17373354

Recent clinical studies

Etiology

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
Chakravarty J, Sundar S, Chourasia A, Singh PN, Kurle S, Tripathy SP, Chaturbhuj DN, Rai M, Agarwal AK, Mishra RN, Paranjape RS
BMC Infect Dis 2015 Nov 14;15:517. doi: 10.1186/s12879-015-1270-8. PMID: 26572102Free 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
Ziakas PD, Prodromou ML, El Khoury J, Zintzaras E, Mylonakis E
PLoS One 2013;8(11):e81047. Epub 2013 Nov 25 doi: 10.1371/journal.pone.0081047. PMID: 24282567Free PMC Article
Cardoso CC, Pereira AC, de Sales Marques C, Moraes MO
Future Microbiol 2011 May;6(5):533-49. doi: 10.2217/fmb.11.39. PMID: 21585261

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
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
Cattamanchi A, Crowder R, Kityamuwesi A, Kiwanuka N, Lamunu M, Namale C, Tinka LK, Nakate AS, Ggita J, Turimumahoro P, Babirye D, Oyuku D, Berger C, Tucker A, Patel D, Sammann A, Turyahabwe S, Dowdy D, Katamba A
PLoS Med 2021 May;18(5):e1003628. Epub 2021 May 6 doi: 10.1371/journal.pmed.1003628. PMID: 33956802Free PMC Article
Cardoso CC, Pereira AC, de Sales Marques C, Moraes MO
Future Microbiol 2011 May;6(5):533-49. doi: 10.2217/fmb.11.39. PMID: 21585261

Therapy

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
Jadhav K, Singh R, Ray E, Singh AK, Verma RK
Curr Protein Pept Sci 2022;23(10):643-656. doi: 10.2174/1389203723666220526161109. PMID: 35619262
Nidoi J, Muttamba W, Walusimbi S, Imoko JF, Lochoro P, Ictho J, Mugenyi L, Sekibira R, Turyahabwe S, Byaruhanga R, Putoto G, Villa S, Raviglione MC, Kirenga B
BMC Public Health 2021 Nov 26;21(1):2167. doi: 10.1186/s12889-021-12056-1. PMID: 34836521Free PMC Article
Cattamanchi A, Crowder R, Kityamuwesi A, Kiwanuka N, Lamunu M, Namale C, Tinka LK, Nakate AS, Ggita J, Turimumahoro P, Babirye D, Oyuku D, Berger C, Tucker A, Patel D, Sammann A, Turyahabwe S, Dowdy D, Katamba A
PLoS Med 2021 May;18(5):e1003628. Epub 2021 May 6 doi: 10.1371/journal.pmed.1003628. PMID: 33956802Free 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

Prognosis

Claassens M, Dreyer V, Nepolo E, Mokomele Q, van Rooyen G, Ruswa N, Günther G, Niemann S
Microbiol Spectr 2022 Oct 26;10(5):e0158622. Epub 2022 Sep 27 doi: 10.1128/spectrum.01586-22. PMID: 36165641Free PMC Article
Martin MK, Paul OJ, Sara R, Hilary A, Frank M, Augustin MK, Stavia T, Christopher W, van Zanten TV, Gladys T
BMC Infect Dis 2021 Oct 12;21(1):1060. doi: 10.1186/s12879-021-06743-y. PMID: 34641816Free PMC Article
Nadarajan D, Hillemann D, Kamara R, Foray L, Conteh OS, Merker M, Niemann S, Lau J, Njoya M, Kranzer K, Somoskovi A, Maurer FP
J Clin Microbiol 2021 Apr 20;59(5) doi: 10.1128/JCM.02983-20. PMID: 33658264Free PMC Article
Gomes JDA, Kowalski TW, Fraga LR, Macedo GS, Sanseverino MTV, Schuler-Faccini L, Vianna FSL
Sci Rep 2019 Aug 6;9(1):11413. doi: 10.1038/s41598-019-47739-8. PMID: 31388035Free PMC Article
Chakravarty J, Sundar S, Chourasia A, Singh PN, Kurle S, Tripathy SP, Chaturbhuj DN, Rai M, Agarwal AK, Mishra RN, Paranjape RS
BMC Infect Dis 2015 Nov 14;15:517. doi: 10.1186/s12879-015-1270-8. PMID: 26572102Free PMC Article

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
Claassens M, Dreyer V, Nepolo E, Mokomele Q, van Rooyen G, Ruswa N, Günther G, Niemann S
Microbiol Spectr 2022 Oct 26;10(5):e0158622. Epub 2022 Sep 27 doi: 10.1128/spectrum.01586-22. PMID: 36165641Free PMC Article
Cattamanchi A, Crowder R, Kityamuwesi A, Kiwanuka N, Lamunu M, Namale C, Tinka LK, Nakate AS, Ggita J, Turimumahoro P, Babirye D, Oyuku D, Berger C, Tucker A, Patel D, Sammann A, Turyahabwe S, Dowdy D, Katamba A
PLoS Med 2021 May;18(5):e1003628. Epub 2021 May 6 doi: 10.1371/journal.pmed.1003628. PMID: 33956802Free PMC Article
Nadarajan D, Hillemann D, Kamara R, Foray L, Conteh OS, Merker M, Niemann S, Lau J, Njoya M, Kranzer K, Somoskovi A, Maurer FP
J Clin Microbiol 2021 Apr 20;59(5) doi: 10.1128/JCM.02983-20. PMID: 33658264Free PMC Article
Weinschutz Mendes H, Boldt ABW, von Rosen Seeling Stahlke E, Jensenius JC, Thiel S, Messias-Reason IJT
PLoS Negl Trop Dis 2020 Apr;14(4):e0007534. Epub 2020 Apr 2 doi: 10.1371/journal.pntd.0007534. PMID: 32240160Free PMC Article

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
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
Cogen AL, Lebas E, De Barros B, Harnisch JP, Faber WR, Lockwood DN, Walker SL
Am J Trop Med Hyg 2020 May;102(5):1131-1136. doi: 10.4269/ajtmh.19-0616. PMID: 32157993Free 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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