A '''connective tissue disease''' (collagenosis) is any disease that has the [[connective tissue]]s of the body as a target of pathology. Connective tissue is any type of [[biological tissue]] with an extensive [[extracellular matrix]] that supports, binds together, and protects [[organ (anatomy)|organ]]s. These tissues form a framework, or matrix, for the body, and are composed of two major structural [[protein]] molecules: [[collagen]] and [[elastin]]. There are many different types of collagen protein in each of the body's tissues. Elastin has the capability of stretching and returning to its original length—like a spring or rubber band. Elastin is the major component of ligaments (tissues that attach bone to bone) and skin. In patients with connective tissue disease, it is common for collagen and elastin to become injured by inflammation (ICT). Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body tissues (autoimmunity).<ref name="Shiel">William C. Shiel Jr.,[http://www.medicinenet.com/connective_tissue_disease/article.htm Connective Tissue Disease]</ref>
| prognosis = Varies by specific condition
| frequency = Common
Diseases in which inflammation or weakness of collagen tends to occur are also referred to as [[collagen disease]]s. [[Collagen vascular disease]]s can be (but are not necessarily) associated with collagen and blood vessel abnormalities and that are [[autoimmune]] in nature.<ref name="Shiel"/> See also [[vasculitis]].
}}
{{Short description|Group of diseases affecting connective tissues}}
Connective tissue diseases can have strong or weak inheritance risks, and can also be caused by environmental factors.
'''Connective tissue disease''' (CTD) refers to a group of disorders involving the protein-rich tissue that supports organs and other parts of the body. Connective tissues are primarily composed of two proteins: collagen and elastin. These tissues are essential for providing strength, elasticity, and support to various structures within the body.
==Types of Connective Tissue Disease==
==Heritable connective tissue disorders==
Connective tissue diseases can be broadly categorized into two types: inherited and acquired.
===Inherited Connective Tissue Diseases===
* [[Marfan syndrome]] – a genetic disease causing abnormal [[fibrillin]].<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/marfan-syndrome|title=Marfan syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
Inherited connective tissue diseases are genetic disorders that affect the structure and function of connective tissues. Some common inherited connective tissue diseases include:
* [[Ehlers–Danlos syndrome]] – defect in the synthesis of collagen (Type I or III) causes progressive deterioration of collagens, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, arterial walls.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome|title=Ehlers-Danlos syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* '''[[Marfan syndrome]]''': A disorder affecting the body's connective tissue, leading to features such as long limbs, a tall stature, and cardiovascular complications.
* [[Osteogenesis imperfecta]] (brittle bone disease) – caused by poor quality collagen, or insufficient amounts of normal collagen (primarily type I), necessary for healthy, strong bones and certain other connective tissues.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta|title=Osteogenesis imperfecta|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* '''[[Ehlers-Danlos syndrome]]''': A group of disorders characterized by hypermobile joints, stretchy skin, and a tendency to bruise easily.
* [[Stickler syndrome]] – affects collagen (primarily type II and XI), and may result in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/stickler-syndrome|title=Stickler syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* '''[[Osteogenesis imperfecta]]''': Also known as "brittle bone disease," this condition results in fragile bones that break easily.
*[[Alport syndrome]] – defects in collagen (type IV), found in the renal basement membrane, inner ear and eyes, leading to [[glomerulonephritis]], hearing loss, and eye disease, respectively.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/alport-syndrome|title=Alport syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
===Acquired Connective Tissue Diseases===
* [[Congenital contractural arachnodactyly]] – Also known as Beals syndrome. It is akin to Marfan syndrome but with contractures of hip, knee, elbows and ankle joint and crumpled ear.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly|title=Congenital contractural arachnodactyly|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
Acquired connective tissue diseases are not inherited but develop due to various factors, including autoimmune processes. Some common acquired connective tissue diseases include:
* [[Loeys–Dietz syndrome]] – The disorder is marked by [[aneurysm]]s in the aorta, often in children. Symptoms appear to be like Marfan Syndrome and EDS. This is caused by a mutation in the gene TGFBR on either chromosome 3 or 9 depending on the type.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome|title=Loeys-Dietz syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* '''[[Rheumatoid arthritis]]''': An autoimmune disorder that primarily affects joints, leading to inflammation and pain.
* '''[[Systemic lupus erythematosus]]''': A chronic autoimmune disease that can affect multiple organs, including the skin, joints, and kidneys.
==Autoimmune connective tissue disorders==
* '''[[Scleroderma]]''': A group of autoimmune diseases that cause hardening and tightening of the skin and connective tissues.
{{main|Autoimmunity|}}
* '''[[Polymyositis]] and [[dermatomyositis]]''': Inflammatory diseases that cause muscle weakness and skin rashes.
These are also referred to as [[systemic autoimmune diseases]]. The [[autoimmune]] CTDs may have both genetic and environmental causes. Genetic factors may create a predisposition towards developing these autoimmune diseases. They are characterized as a group by the presence of spontaneous overactivity of the immune system that results in the production of extra antibodies into the circulation. The classic [[Autoimmune disease|collagen vascular diseases]] have a "classic" presentation with typical findings that doctors can recognize during an examination. Each also has "classic" blood test abnormalities and abnormal antibody patterns. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis. The classic collagen vascular diseases include:
==Symptoms==
The symptoms of connective tissue diseases vary widely depending on the specific condition but may include:
* [[Systemic lupus erythematosus]] (SLE) – An inflammation of the connective tissues, SLE can afflict every organ system. It is up to nine times more common in women than men and affects black women three times as often as white women. The condition is aggravated by sunlight.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus|title=Systemic lupus erythematosus|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* Joint pain and swelling
* [[Rheumatoid arthritis]] – Rheumatoid arthritis is a systemic disorder in which immune cells attack and inflame the membrane around joints. It also can affect the heart, lungs, and eyes. Of the estimated 2.1 million Americans with rheumatoid arthritis, approximately 1.5 million (71 percent) are women.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/rheumatoid-arthritis|title=Rheumatoid arthritis|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* Skin rashes
* [[Scleroderma]] – an activation of immune cells that produces scar tissue in the skin, internal organs, and small blood vessels. It affects women three times more often than men overall, but increases to a rate 15 times greater for women during childbearing years, and appears to be more common among black women.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/systemic-scleroderma|title=Systemic scleroderma|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* Fatigue
* [[Sjögren's syndrome]] – also called Sjögren's disease, is a chronic, slowly progressing inability to secrete saliva and tears. It can occur alone or with rheumatoid arthritis, scleroderma, or systemic lupus erythematosus. Nine out of 10 cases occur in women, most often at or around mid-life.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/sjogren-syndrome|title=Sjögren syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-11-19}}</ref>
* Muscle weakness
* [[Mixed connective tissue disease]] – Mixed connective-tissue disease (MCTD) is a disorder in which features of various connective-tissue diseases (CTDs) such as systemic lupus erythematosus (SLE); [[systemic sclerosis]] (SSc); [[dermatomyositis]] (DM); [[polymyositis]] (PM); [[anti-synthetase syndrome]]; and, occasionally, Sjögren syndrome can coexist and overlap. The course of the disease is chronic and usually milder than other CTDs. In most cases, MCTD is considered an intermediate stage of a disease that eventually becomes either SLE or Scleroderma.
* Fever
* [[Undifferentiated connective tissue disease]] (UCTD) is a disease in which the body mistakenly attacks its own tissues. It is diagnosed when there is evidence of an existing autoimmune condition which does not meet the criteria for any specific autoimmune disease, such as systemic lupus erythematosus or scleroderma. Latent lupus and incomplete lupus are alternative terms that have been used to describe this condition.<ref name=uctd>{{cite journal | last=Bodolay | first=E. | last2=Szegedi | first2=G. | date=May 2009 | title=Undifferentiated connective tissue disease | journal=Orvosi Hetilap | language=Hungarian | publisher=Akadémiai Kiadó | volume=150 | issue=19 | pages=867–872 | doi=10.1556/OH.2009.28610 | issn=1788-6120 | pmid=19403430 |name-list-style=vanc}}</ref>
* Organ dysfunction
* [[Psoriatic arthritis]] is also a collagen vascular disease.<ref>[https://www.nlm.nih.gov/medlineplus/ency/article/001223.htm Medline Plus, Collagen vascular disease.]</ref>
==Diagnosis==
Diagnosing connective tissue diseases often involves a combination of clinical evaluation, laboratory tests, and imaging studies. Common diagnostic tools include:
==Other connective tissue disorders==
* Blood tests to detect specific autoantibodies
* [[Peyronie's disease]] – involving the growth of abnormal [[collagen]] (Type I and III) in the penis.<ref>{{Cite journal|last=Herati|first=Amin S.|last2=Pastuszak|first2=Alexander W.|date=2016-01-01|title=The Genetic Basis of Peyronie's Disease: A Review|journal=Sexual Medicine Reviews|volume=4|issue=1|pages=85–94|doi=10.1016/j.sxmr.2015.10.002|issn=2050-0513|pmc=4778255|pmid=27872008}}</ref>
* Imaging studies such as X-rays, MRI, or CT scans
* [[Scurvy]] – caused by a dietary deficiency in [[vitamin C]], leading to abnormal [[collagen]].
* Biopsies of affected tissues
* [[Fibromuscular dysplasia]] a disease of the blood vessels leading to abnormal growth in the arterial wall.
==Treatment==
Treatment for connective tissue diseases depends on the specific condition and its severity. Common treatment approaches include:
==References==
* Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and immunosuppressants
{{Reflist}}
* Physical therapy to maintain joint and muscle function
* Lifestyle modifications, including diet and exercise
==External links==
==Prognosis==
The prognosis for individuals with connective tissue diseases varies widely. Some conditions, like Marfan syndrome, can be managed effectively with regular monitoring and treatment, while others, such as systemic lupus erythematosus, may require lifelong management to control symptoms and prevent complications.
* [http://www.merckmanuals.com/professional/musculoskeletal_and_connective_tissue_disorders.html Merck Manual: Musculoskeletal and connective tissue disorders]
Connective tissue disease (CTD) refers to a group of disorders involving the protein-rich tissue that supports organs and other parts of the body. Connective tissues are primarily composed of two proteins: collagen and elastin. These tissues are essential for providing strength, elasticity, and support to various structures within the body.
Inherited connective tissue diseases are genetic disorders that affect the structure and function of connective tissues. Some common inherited connective tissue diseases include:
Marfan syndrome: A disorder affecting the body's connective tissue, leading to features such as long limbs, a tall stature, and cardiovascular complications.
Ehlers-Danlos syndrome: A group of disorders characterized by hypermobile joints, stretchy skin, and a tendency to bruise easily.
Osteogenesis imperfecta: Also known as "brittle bone disease," this condition results in fragile bones that break easily.
Acquired connective tissue diseases are not inherited but develop due to various factors, including autoimmune processes. Some common acquired connective tissue diseases include:
Rheumatoid arthritis: An autoimmune disorder that primarily affects joints, leading to inflammation and pain.
Systemic lupus erythematosus: A chronic autoimmune disease that can affect multiple organs, including the skin, joints, and kidneys.
Scleroderma: A group of autoimmune diseases that cause hardening and tightening of the skin and connective tissues.
Diagnosing connective tissue diseases often involves a combination of clinical evaluation, laboratory tests, and imaging studies. Common diagnostic tools include:
The prognosis for individuals with connective tissue diseases varies widely. Some conditions, like Marfan syndrome, can be managed effectively with regular monitoring and treatment, while others, such as systemic lupus erythematosus, may require lifelong management to control symptoms and prevent complications.
