Connective tissue disease,also known asconnective tissue disorder,orcollagen vascular diseases,refers to anydisorderthat affects theconnective tissue.[1]The body's structures are held together by connective tissues, consisting of two distinctproteins:elastinandcollagen.Tendons,ligaments,skin,cartilage,bone,andblood vesselsare all made of collagen. Skin and ligaments contain elastin. The proteins and the body's surrounding tissues may suffer damage when these connective tissues becomeinflamed.[2]
| Connective tissue disease | |
|---|---|
| Other names | Connective tissue disorder, collagen vascular diseases |
 | |
| Different types ofconnective tissue | |
| Specialty | Rheumatology |
The two main categories of connective tissue diseases are (1) a set of relatively raregenetic disordersaffecting the primary structure of connective tissue, and (2) a variety of acquired diseases where the connective tissues are the site of multiple, more or less distinct immunological and inflammatory reactions.
Diseases in which inflammation or weakness of collagen tends to occur are also referred to ascollagen diseases.Collagen vascular diseasescan be (but are not necessarily) associated with collagen and blood vessel abnormalities that areautoimmunein nature.
Some connective tissue diseases have strong or weakgenetic inheritancerisks. Others may be due to environmental factors, or a combination of genetic and environmental influences.
Classification
editConnective tissue diseases can be classified into two groups: (1) a group of relatively raregenetic disordersaffecting the primary structure ofconnective tissue;and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.[1]
Heritable connective tissue disorders
editHereditary connective tissue disorders are a diverse set of broad, single-gene disorders that impact one or more of the main components ofconnective tissues,such as ground substance (glycosaminoglycans),collagen,orelastin.Many result in anomalies of the skeleton and joints, which can substantially impair normal growth and development. In contrast to acquired connective tissue diseases, these conditions are uncommon.[1]
- Marfan syndrome- inherited as an autosomal dominant characteristic, due to mutations in theFBN1gene that encodesfibrillin 1.[3]
- Homocystinuria- condition ofmethioninemetabolism brought on by acystathionine β-synthasedeficit that causes a build-up ofhomocysteineand its metabolites in the urine and blood.[4]
- Ehlers–Danlos syndrome- diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints,blood vessels,and internal organs.[5]
- Osteogenesis imperfecta- hereditary condition marked by reducedbone mass,weakened bones, increased brittleness, andshort stature.[6]
- Alkaptonuria-inborn error of metabolismcaused by mutations in the HGO gene andhomogentisate 1,2-dioxygenasedeficiency.[7][8]
- Pseudoxanthoma elasticum- rare multisystem disease marked by gradual calcification and fragmentation ofelastic fibres.[9]
- Mucopolysaccharidosis- a class of hereditary illnesses distinguished by the excretion ofmucopolysaccharidein the urine.[10]
- Fibrodysplasia ossificans progressiva- rare and debilitating hereditary disorder characterized by progressiveheterotopic ossificationand congenital skeletal malformations.[11]
- Familialosteochondritis dissecans- separation of thesubchondral boneandcartilagefrom the surrounding tissue.[12]
- Stickler syndrome- autosomal dominant disorder distinguished by skeletal, ocular, and orofacial abnormalities.[13]
- Alport syndrome- hereditarykidney diseaseis distinguished by structural abnormalities and malfunction in theglomerular basement membrane,as well asbasement membranesin other organs such as the eye and ear.[14]
- Congenital contractural arachnodactyly- autosomal dominant disorder defined byarachnodactyly,multiple flexion contractures, abnormalpinnae,severekyphoscoliosis,and muscular hypoplasia.[15]
- Epidermolysis bullosa- hereditary, diverse grouping of rare geneticdermatosesthat are marked by blisters and mucocutaneous fragility.[16]
- Loeys–Dietz syndrome- autosomal dominant condition linked to a wide range of systemic manifestations, such as skeletal, cutaneous, vascular, and craniofacial abnormalities.[17]
- Hypermobility spectrum disorder- a variety of connective tissue diseases that are marked by ongoing pain andjoint hypermobility.[18]
Autoimmune connective tissue disorders
editAcquired connective tissue diseases share certain clinical features, such as joint inflammation, inflammation ofserous membranes,andvasculitis,as well as a high frequency of involvement of various internal organs that are particularly rich inconnective tissue.[1]
- Rheumatoid arthritis-autoimmune diseasewith an unclear cause that manifests as symmetric, erosivesynovitisand, occasionally, extraarticular involvement.[19]
- Systemic lupus erythematosus- chronic, complexautoimmuneinflammatory disorder that can affect every organ in the body.[20]
- Scleroderma- diverse collection of autoimmune fibrosing conditions.[21]
- Dermatomyositisandpolymyositis- autoimmunemyopathiesthat are clinically characterized by extramuscular symptoms, muscleinflammation,proximalmuscle weakening,and oftentimes the detection ofautoantibodies.[22]
- Vasculitis- disease that results inblood vesselinflammation.[23]
- Sjögren syndrome- a systemic autoimmune illness that mostly affects theexocrine glandsand causes mucosal surfaces, especially those in the mouth and eyes, to become extremely dry.[24]
- Rheumatic fever- multisystem inflammatory illness that develops after group Astreptococcal pharyngitis.[25]
- Amyloidosis- uncommon condition caused by protein mutations or changes in the body that result in twisted clusters of malformed proteins accumulating on organs and tissues.[26]
- Osteoarthritis- common articular cartilage degenerative disease linked to hypertrophic bone abnormalities.[27]
- Thrombotic thrombocytopenic purpura- uncommon and potentially fatal thromboticmicroangiopathycharacterized by severethrombocytopenia,organischemiaconnected to diffuse microvascular platelet rich-thrombi, and microangiopathichemolytic anemia.[28]
- Relapsing polychondritis- uncommon multisystem autoimmune disease with an unclear etiology that is marked by progressive cartilaginous tissue loss and recurring episodes of inflammation.[29]
- Mixed connective tissue disease- systemic autoimmune disease that shares characteristics with two or more other systemic autoimmune diseases, such asrheumatoid arthritis,polymyositis/dermatomyositis,systemic lupus erythematosus,andsystemic sclerosis.[30]
- Undifferentiated connective tissue disease- unclassifiable systemic autoimmune disorders that do not meet any of the current classification requirements for connective tissue diseases yet have clinical and serological signs similar to connective tissue diseases.[31]
- Psoriatic arthritis- inflammatory musculoskeletal condition linked topsoriasis.[32]
See also
editReferences
edit- ^abcdBenedek, Thomas G.; Rodnan, Gerald P. (1998-07-24)."Description, Types, & Symptoms".Encyclopedia Britannica.Retrieved2024-07-15.
- ^"Connective Tissue Disorders".Cedars-Sinai.2020-06-08.Retrieved2024-07-16.
- ^Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian; Nistri, Stefano (2016)."Marfan syndrome: current perspectives".The Application of Clinical Genetics.9:55–65.doi:10.2147/TACG.S96233.ISSN1178-704X.PMC4869846.PMID27274304.
- ^Kumar, Tarun; Sharma, Gurumayum Suraj; Singh, Laishram Rajendrakumar (2016). "Homocystinuria: Therapeutic approach".Clinica Chimica Acta.458.Elsevier BV: 55–62.doi:10.1016/j.cca.2016.04.002.ISSN0009-8981.PMID27059523.
- ^De Paepe, A; Malfait, F (2012). "The Ehlers–Danlos syndrome, a disorder with many faces".Clinical Genetics.82(1): 1–11.doi:10.1111/j.1399-0004.2012.01858.x.ISSN0009-9163.PMID22353005.
- ^Marini, Joan C.; Cabral, Wayne A. (2018). "Osteogenesis Imperfecta".Genetics of Bone Biology and Skeletal Disease.Elsevier. pp. 397–420.doi:10.1016/b978-0-12-804182-6.00023-x.ISBN978-0-12-804182-6.
- ^Bernardini, Giulia; Braconi, Daniela; Zatkova, Andrea; Sireau, Nick; Kujawa, Mariusz J.; Introne, Wendy J.; Spiga, Ottavia; Geminiani, Michela; Gallagher, James A.; Ranganath, Lakshminarayan R.; Santucci, Annalisa (2024-03-07). "Alkaptonuria".Nature Reviews Disease Primers.10(1). Springer Science and Business Media LLC: 16.doi:10.1038/s41572-024-00498-x.ISSN2056-676X.PMID38453957.
- ^Phornphutkul, Chanika; Introne, Wendy J.; Perry, Monique B.; Bernardini, Isa; Murphey, Mark D.; Fitzpatrick, Diana L.; Anderson, Paul D.; Huizing, Marjan; Anikster, Yair; Gerber, Lynn H.; Gahl, William A. (2002-12-26). "Natural History of Alkaptonuria".New England Journal of Medicine.347(26): 2111–2121.doi:10.1056/NEJMoa021736.ISSN0028-4793.PMID12501223.
- ^Laube, S (2005-07-01)."Pseudoxanthoma elasticum".Archives of Disease in Childhood.90(7): 754–756.doi:10.1136/adc.2004.062075.ISSN0003-9888.PMC1720489.PMID15970621.
- ^"Mucopolysaccharidoses (MPS)".Johns Hopkins Medicine.2021-08-08.Retrieved2024-07-15.
- ^Kaplan, Frederick S.; Le Merrer, Martine; Glaser, David L.; Pignolo, Robert J.; Goldsby, Robert E.; Kitterman, Joseph A.; Groppe, Jay; Shore, Eileen M. (2008)."Fibrodysplasia ossificans progressiva".Best Practice & Research Clinical Rheumatology.22(1). Elsevier BV: 191–205.doi:10.1016/j.berh.2007.11.007.ISSN1521-6942.PMC2424023.PMID18328989.
- ^Stattin, E.-L.; Tegner, Y.; Domellöf, M.; Dahl, N. (2008). "Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature".Osteoarthritis and Cartilage.16(8). Elsevier BV: 890–896.doi:10.1016/j.joca.2007.11.009.ISSN1063-4584.PMID18226555.
- ^Bennett, James; McMurray, Scott (November 1990)."Stickler Syndrome".Journal of Pediatric Orthopaedics.10(6): 760–763.doi:10.1097/01241398-199011000-00010.PMID2250061.Retrieved15 July2024.
- ^Warady, Bradley A.; Agarwal, Rajiv; Bangalore, Sripal; Chapman, Arlene; Levin, Adeera; Stenvinkel, Peter; Toto, Robert D.; Chertow, Glenn M. (2020)."Alport Syndrome Classification and Management".Kidney Medicine.2(5). Elsevier BV: 639–649.doi:10.1016/j.xkme.2020.05.014.ISSN2590-0595.PMC7568086.PMID33094278.
- ^Tunçbilek, Ergül; Alanay, Yasemin (2006)."Congenital contractural arachnodactyly (Beals syndrome)".Orphanet Journal of Rare Diseases.1(1): 20.doi:10.1186/1750-1172-1-20.ISSN1750-1172.PMC1524931.PMID16740166.
- ^Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E.; Polson, Rex; Heagerty, Adrian H. (2020-09-24). "Epidermolysis bullosa".Nature Reviews Disease Primers.6(1). Springer Science and Business Media LLC: 78.doi:10.1038/s41572-020-0210-0.ISSN2056-676X.PMID32973163.
- ^Gouda, Pishoy; Kay, Robert; Habib, Marina; Aziz, Amir; Aziza, Eitan; Welsh, Robert (2022)."Clinical features and complications of Loeys-Dietz syndrome: A systematic review".International Journal of Cardiology.362:158–167.doi:10.1016/j.ijcard.2022.05.065.PMID35662564.
- ^Atwell, Karina; Michael, William; Dubey, Jared; James, Sarah; Martonffy, Andrea; Anderson, Scott; Rudin, Nathan; Schrager, Sarina (2021)."Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care".The Journal of the American Board of Family Medicine.34(4): 838–848.doi:10.3122/jabfm.2021.04.200374.ISSN1557-2625.PMID34312277.
- ^American College of Rheumatology Subcommittee on Rheumatoid Arthritis Guidelines (2002). "Guidelines for the management of rheumatoid arthritis: 2002 Update".Arthritis & Rheumatism.46(2): 328–346.doi:10.1002/art.10148.ISSN0004-3591.PMID11840435.
- ^COJOCARU, Manole; COJOCARU, Inimioara Mihaela; SILOSI, Isabela; VRABIE, Camelia Doina (2024-03-14)."Manifestations of Systemic Lupus Erythematosus".Mædica.6(4). Amaltea Medical, Editura Magister: 330–336.PMC3391953.PMID22879850.
- ^Fett, Nicole (2013). "Scleroderma: Nomenclature, etiology, pathogenesis, prognosis, and treatments: Facts and controversies".Clinics in Dermatology.31(4). Elsevier BV: 432–437.doi:10.1016/j.clindermatol.2013.01.010.ISSN0738-081X.PMID23806160.
- ^Mammen, Andrew L. (2010). "Dermatomyositis and polymyositis: Clinical presentation, autoantibodies, and pathogenesis".Annals of the New York Academy of Sciences.1184(1): 134–153.doi:10.1111/j.1749-6632.2009.05119.x.ISSN0077-8923.PMID20146695.
- ^Cleveland Clinic medical professional (2024-05-01)."Vasculitis: Symptoms, Types & Treatment".Cleveland Clinic.Retrieved2024-07-15.
- ^Brito-Zerón, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel (2016-07-07). "Sjögren syndrome".Nature Reviews Disease Primers.2(1). Springer Science and Business Media LLC: 16047.doi:10.1038/nrdp.2016.47.ISSN2056-676X.PMID27383445.
- ^Rullan, Eugenia; Sigal, Leonard H. (2001). "Rheumatic fever".Current Rheumatology Reports.3(5): 445–452.doi:10.1007/s11926-996-0016-4.ISSN1523-3774.PMID11564377.
- ^Cleveland Clinic medical professional (2022-07-05)."Amyloidosis: What It Is, Symptoms, Types & Treatment".Cleveland Clinic.Retrieved2024-07-16.
- ^Sinusas, Keith (2012-01-01)."Osteoarthritis: Diagnosis and Treatment".American Family Physician.85(1): 49–56.Retrieved2024-07-16.
- ^Joly, Bérangère S.; Coppo, Paul; Veyradier, Agnès (2017-05-25). "Thrombotic thrombocytopenic purpura".Blood.129(21): 2836–2846.doi:10.1182/blood-2016-10-709857.ISSN0006-4971.PMID28416507.
- ^GERGELY, P (2004). "Relapsing polychondritis".Best Practice & Research Clinical Rheumatology.18(5). Elsevier BV: 723–738.doi:10.1016/j.berh.2004.05.012.ISSN1521-6942.PMID15454129.
- ^Tani, Chiara; Carli, Linda; Vagnani, Sabrina; Talarico, Rosaria; Baldini, Chiara; Mosca, Marta; Bombardieri, Stefano (2014). "The diagnosis and classification of mixed connective tissue disease".Journal of Autoimmunity.48–49. Elsevier BV: 46–49.doi:10.1016/j.jaut.2014.01.008.ISSN0896-8411.PMID24461387.
- ^Mosca, Marta; Tani, Chiara; Vagnani, Sabrina; Carli, Linda; Bombardieri, Stefano (2014). "The diagnosis and classification of undifferentiated connective tissue diseases".Journal of Autoimmunity.48–49. Elsevier BV: 50–52.doi:10.1016/j.jaut.2014.01.019.ISSN0896-8411.PMID24518855.
- ^Ocampo D, Vanessa; Gladman, Dafna (2019-09-20)."Psoriatic arthritis".F1000Research.8.F1000 Research Ltd: 1665.doi:10.12688/f1000research.19144.1.ISSN2046-1402.PMC6758836.PMID31583079.
Further reading
edit- Spagnolo, Paolo; Cordier, Jean-François; Cottin, Vincent (2016-02-25). "Connective tissue diseases, multimorbidity and the ageing lung".European Respiratory Journal.47(5). European Respiratory Society (ERS): 1535–1558.doi:10.1183/13993003.00829-2015.ISSN0903-1936.PMID26917611.
- Baildam, Eileen (2014). "Rare connective tissue diseases in childhood".Paediatrics and Child Health.24(2): 51–57.doi:10.1016/j.paed.2013.12.005.
External links
edit- "Connective Tissue Disorders".National Library of Medicine. 2017-09-15.
- Dunkin, Mary Anne (2023-10-10)."Connective Tissue Disease: Types, Symptoms, Causes".WebMD.
- "Connective tissue diseases".DermNet®.2023-10-26.