Systemic connective tissue diseases 4.63/5 (71)

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Connective tissue diseases most often attack young women

Systemic connective tissue disorders are rheumatic diseases with joint and muscle pain. Women are most often affected. Photo: Pexels, License CC0

Connective tissue diseases are rheumatic diseases with inflammation, joint pain or muscle aches. The diseases attack connective tissue located in joints, muscles, skin and internal organs. When the immune system mistakenly attacks the tissue in its own body, it can occur autoimmune systemic connective tissue diseases. Proper diagnosis and treatment is important for the prognosis. Examples of rheumatic connective tissue disorders are:

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.

Rare, hereditary (genetic) connective tissue diseases are discussed further down this page.

https://upload.wikimedia.org/wikipedia/commons/5/52/Lupusfoto.jpg

"Butterfly rash" in women with connective tissue disease Systemic Lupus (SLE) Photo:Doctor Internet
CC BY SA 4.0

Lupus on ears, cheek mouth and fingers

Connective Tissue disease Systemic Lupus (SLE) with a rash on the ears, cheeks, mouth and fingers of a young girl. Huang CF, Ann Dermatol, 2011, Dep or Dermatol, Taiwan. CC BY NC 3.0

Disease Causes

The causative causes of connective tissue disorders are still unknown. 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 male's Y chromosome has about 100 genes, and many of the genes on the X chromosome are attached. for autoimmune diseases. Genetic predisposition and a more complex immune system among women is only partial explanation. Younger people are often the most affected, probably because their immune system, which is central to the disease mechanism (see more below), is most potent in younger years.

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, in the blood is seen Antibodies which can be typical of the individual condition and because the diseases damage various organs.

Dermatomyositis

Dermatomyositis is connective tissue disease with obvious eczema. Marvi U, XNUM. CC BY-NC-SA3.0

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. 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 (click on the text)

Treatment of connective tissue diseases

Before starting a treatment, it is important to be well informed of the disease, what the treatment goal is and what side effects may occur. The treatment should 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 crucial in the first and most active, debilitating disease states, but should be avoided by 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).

Research

Research is being done on rheumatic connective tissue diseases at several Norwegian departments and to a large extent at the Department of Rheumatology at Oslo University Hospital (OUS), Rikshospitalet.

Connective Tissue disease Systemic sclerosis / scleroderma with swollen fingers. Cutolo M, 2014. license: Openi.

Patients who want it are included in a research register: Norwegian Systemic Connective Tissue Disease and Vasculitis Register (NOSVAR). In recent years, the register has contributed to approximately 100 research papers published in international journals. PhD (doctoral) work has been completed for the diseases: MCTD, Systemic sclerosis, SLE, Myositis, Antisynthetase syndrome, Takayasu arteritis and more new work is under way. The good cooperation between patients, doctors and researchers is crucial to obtaining new knowledge for the benefit of the treatment.

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 (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 are closely linked to Vaskulitt.no which describes rheumatic vasculitis and similar conditions

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