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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

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
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
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
Joyce MP
Mem Inst Oswaldo Cruz 2012 Dec;107 Suppl 1:17-21. doi: 10.1590/s0074-02762012000900004. PMID: 23283448
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
Alter A, Grant A, Abel L, Alcaïs A, Schurr E
Mamm Genome 2011 Feb;22(1-2):19-31. Epub 2010 Oct 9 doi: 10.1007/s00335-010-9287-1. PMID: 20936290

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
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
Guevara A, Nery AF, de Souza Carvalho Melhem M, Bonfietti L, Rodrigues AM, Hagen F, de Carvalho JA, de Camargo ZP, de Souza Lima BJF, Vicente VA, Hahn RC
Mycoses 2022 Dec;65(12):1146-1158. Epub 2022 Sep 29 doi: 10.1111/myc.13505. PMID: 35869803Free PMC Article
Anantharam P, Emerson LE, Bilcha KD, Fairley JK, Tesfaye AB
PLoS Negl Trop Dis 2021 Jun;15(6):e0009456. Epub 2021 Jun 24 doi: 10.1371/journal.pntd.0009456. PMID: 34166403Free 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
Guevara A, Nery AF, de Souza Carvalho Melhem M, Bonfietti L, Rodrigues AM, Hagen F, de Carvalho JA, de Camargo ZP, de Souza Lima BJF, Vicente VA, Hahn RC
Mycoses 2022 Dec;65(12):1146-1158. Epub 2022 Sep 29 doi: 10.1111/myc.13505. PMID: 35869803Free 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
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
Walsh DS, Portaels F, Meyers WM
Curr Opin Infect Dis 2010 Oct;23(5):445-55. doi: 10.1097/QCO.0b013e32833c2209. PMID: 20581668

Prognosis

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
Shao D, Deng YT, Shao FQ, Liang JW, Wang SX
Clin Nucl Med 2020 May;45(5):e236-e238. doi: 10.1097/RLU.0000000000002935. PMID: 31977489
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
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

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
Guevara A, Nery AF, de Souza Carvalho Melhem M, Bonfietti L, Rodrigues AM, Hagen F, de Carvalho JA, de Camargo ZP, de Souza Lima BJF, Vicente VA, Hahn RC
Mycoses 2022 Dec;65(12):1146-1158. Epub 2022 Sep 29 doi: 10.1111/myc.13505. PMID: 35869803Free PMC Article
Joyce MP
Mem Inst Oswaldo Cruz 2012 Dec;107 Suppl 1:17-21. doi: 10.1590/s0074-02762012000900004. PMID: 23283448
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

Recent systematic reviews

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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