Systemic connective tissue diseases 4.62/5 (78)

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Connective tissue diseases most often attack young women
Systemic connective tissue diseases include rheumatic diseases joints- and muscle aches. Women are most often affected. Photo: Pexels, License CC0

Systemic connective tissue diseases are rheumatic conditions characterized by inflammation, joint pain or muscle aches. Proper diagnosis and treatment are important for the prognosis.

The most common rheumatic connective tissue diseases:

The connective tissue is made of the proteins collagen ("Collagen doses") and elastin that binds the body's various organs together. Systemic connective tissue diseases are also referred to as collagenoses or connective tissue inflammation.

Rheumatic diseases in general

Rheumatic diseases can be divided into at least four main groups. Systemic connective tissue diseases are part of the rheumatic inflammatory diseases (group 1):

  1. Rheumatic inflammatory diseases (inflammatory rheumatic diseases)
  2. Degenerative rheumatic diseases (osteoarthritis, «osteoarthritis»)
    • Osteoarthritis attacks joints and is common in the elderly population. Inflammation is not prominent. 
    • When the back or neck (spine, spine) is attacked, we often talk about spondylosis which corresponds to osteoarthritis of the back or neck.
  3. Soft tissue rheumatism (pain in muscles, tendons and tendon attachments)
    • The most common rheumatic diseases are soft tissue rheumatism. These are characterized by pain in muscles, tendons, tendon attachments and joints without any particular inflammation being detected in the blood. Fibromyalgia is a form of soft tissue rheumatism that most often attacks women.
  4. Rheumatic manifestations in primarily non-rheumatic diseases.
    • Metabolic (thyroid) diseases and diabetes are examples.

Rarely, hereditary (genetic) connective tissue diseases and vasculitis diseases are discussed further down this page.

Causes of connective tissue diseases

https://upload.wikimedia.org/wikipedia/commons/5/52/Lupusfoto.jpg
"Butterfly rash" in women with SLE. Photo: Doctoral Internet. CC-By 4.0

The systemic connective tissue diseases attack connective tissue located in joints, muscles, skin and internal organs. Women are more often attacked than men, which may be related to the fact that the X chromosome (women have two, men one) contains over 1000 genes, while the man's Y chromosome has approx. 100 genes, and many of the genes on the X chromosome are linked to autoimmune diseases. Genetic predisposition and a more complex immune system among women are only partial explanations.

Younger people are often most strongly attacked, probably because their immune system, which is central to the disease mechanism (see more below), is most potent in younger years. The triggering causes are still unknown, but details of the disease development have become better known.

Once a systemic connective tissue disease has started, the immune system will overreact with excessive activity. By mistake, the immune system attacks the body's own proteins and tissues (autoimmunity). Nobel prize winner in immunology, Paul Ehrlich, termed the problem as "Horror autotoxicus".

The different connective tissue diseases (diagnoses) can be distinguished because the immune system triggers different symptoms and damages different organs in the body. In addition, the immune system often produces Antibodies which may be typical of the individual condition.

Symptoms of systemic connective tissue disorders

Common to the connective tissue diseases is that they often cause pain in joints and / or muscles, skin symptoms and signs of rheumatic inflammation.

This image is missing alt text; its filename is Systemic-Sclerosis-Hands-Early-Cutolo-PMC2935167_IJR2010-784947.001-300x231.png
Connective Tissue disease Systemic sclerosis / scleroderma with swollen fingers. Cutolo M, 2014. License: Openi. MCTD may have similar changes.

One feels tired. Some people get symptoms from internal organs such as kidneys or lungs. Each disease has its own characteristics (please see under the individual diagnoses).

It was previously said about rheumatic diseases that "no other disease group is responsible for so much suffering in so many people over so long ”. Since then, treatment options have evolved significantly. Newer medications and proper handling save many from serious disease development, pain and disability. For most people, the life prospects under the right treatment are now almost as expected in the population. But for a few with systemic connective tissue diseases, the statement is unfortunately still apt and some die of the disease.

Answer frequently asked questions

Treatment of connective tissue diseases

Before starting a treatment, it is important to be clear about the disease, what the treatment goal is and about side effects that may occur.

The treatment is intended to suppress the overactive immune system so that the skin, kidneys, lungs and other internal organs retain their function. At the same time, the symptoms should be reduced. Cortisone (most often prednisolone) is used in addition to many newer drugs.

Cortisone can be absolutely crucial in the first and most active, destructive stages of the disease, but should be avoided Systemic sclerosis. Other medications (for example Plaquenil, Methotrexate, Azathioprine) are added to avoid much cortisone side effects and to keep the disease at bay. Against pain are paracetamol formulations usually the first choice, followed by NSAIDs. The treatment goal is often that the disease enters a completely calm phase (remission).

For doctors and other health workers

Hereditary (genetic) connective tissue diseases

Symptoms include various types of growth disorders and most often begin in childhood or adolescence. These diseases do not cause rheumatic inflammation and are handled by by pediatricians or specialists in physical medicine.

Marfan's syndrome characterized by long, thin arms, legs, fingers and toes. Often hypermobile joints. Ehlers-Danlos syndrome also causes over-moving joints, stretchable skin and some develop puffiness (aneurysms) on the main artery. Loeys-Dietz syndrome have Marfan-like symptoms and aneurysms on the main artery. HTAD is also a rare hereditary form that causes aneurysms. By Osteogenesis imperfecta the skeleton is weakened and bone fractures are frequent. Stickler's syndrome may have striking facial shape, vision problems, hearing loss and arthritis. Alport syndrome is characterized by non-infectious kidney inflammation (glomerulonephritis) and hearing loss. Congenital contractural arachnodactyly (Beals syndrome) may resemble Marfan's syndrome, but causes bent hips, knees, elbows and ankles (contractures)

Vasculitis is inflammation of blood vessels

Vasculitis diseases is inflammation of the blood vessels and is not considered among the connective tissue diseases, but may have similar symptoms

Vasculitis diseases are described here (in Danish) (Vaskulitt.no)

Website BINDEVEVSSYKDOMMER.no

The content is based on notes from meetings, international congresses, textbooks and input from talented colleagues through 30 years of work on rheumatic diseases. The purpose is to describe the inflammatory rheumatic connective tissue diseases and related conditions that can be confused with these (differential diagnoses). Information is needed to understand the diseases and the treatment, and to enable patients to contribute to the best solutions. Knowledge reduces risk and error in follow-up, which is a collaboration between patient, GP and specialist in the rheumatology / rheumatology department. The pages use cookies. Please read more about yours privacy on its own.

  • The pages are closely linked to Vaskulitt.no which describes rheumatic vasculitis and similar conditions

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