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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.

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

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
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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
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Reza NR, Kusumaputro BH, Alinda MD, Listiawan MY, Thio HB, Prakoeswa CRS
Am J Trop Med Hyg 2022 Jan 10;106(3):775-778. doi: 10.4269/ajtmh.21-0458. PMID: 35008042Free PMC Article
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Clin Genet 2021 Jun;99(6):802-811. Epub 2021 Mar 1 doi: 10.1111/cge.13945. PMID: 33646620
Dzamko NL
Adv Neurobiol 2017;14:123-143. doi: 10.1007/978-3-319-49969-7_7. PMID: 28353282
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

Diagnosis

van Wyk SS, Nliwasa M, Lu FW, Lan CC, Seddon JA, Hoddinott G, Viljoen L, Günther G, Ruswa N, Shah NS, Claassens M
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Khurana A, Sharath S, Sardana K, Chowdhary A
J Am Acad Dermatol 2024 Aug;91(2):315-323. Epub 2024 Apr 3 doi: 10.1016/j.jaad.2024.03.024. PMID: 38574764
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
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

Khurana A, Sharath S, Sardana K, Chowdhary A
J Am Acad Dermatol 2024 Aug;91(2):315-323. Epub 2024 Apr 3 doi: 10.1016/j.jaad.2024.03.024. PMID: 38574764
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
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
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

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
Singh H, Jadhav S, Arif Khan A, Aggarwal SK, Choudhari R, Verma S, Aggarwal S, Gupta V, Singh A, Nain S, Maan HS
Microb Pathog 2022 Jan;162:105326. Epub 2021 Dec 1 doi: 10.1016/j.micpath.2021.105326. PMID: 34863878
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
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

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
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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
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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
Remus N, Alcaïs A, Abel L
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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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