Definition and Overview

Collagen disease is a medical term that refers to a group of connective tissue diseases caused by collagen defects. Collagen is a protein-based connective tissue that connects or binds tissues and organs, such as joints, skin, blood vessels, and muscles together.

Collagen diseases, especially the more common ones like lupus, scleroderma, and rheumatoid arthritis, are more common in women than men and people aged between 30 and 40. However, there are some cases in which the diseases occur in younger patients aged 15 and younger.

Causes of Condition

Collagen diseases can be either congenital/inherited or autoimmune. Congenital cases are those in which the condition is inherited from one’s parents. Some examples include:

  • Alport syndrome - A condition caused by mutations in COL4A3, COL4A4, and COL4A5 genes, which are responsible for providing instructions in making type IV collagen. The protein is an important component of the kidneys, inner ear, and eye structures. The condition can cause hearing loss, eye disease, and glomerulonephritis.

  • Ehlers-Danlos syndrome - Refers to the progressive deterioration of collagen most commonly due to mutations in COL5A1 or COL5A2 gene.

  • Loeys-Dietz syndrome - This condition can cause aortic aneurysms even in paediatric patients due to a mutation in the TGFBR gene on chromosome 3 or 9.

  • Marfan syndrome - Occurs due to a genetic defect in fibrillin-1, a protein involved in the formation of connective tissues. The defect causes overgrowth in bones, so those who have it are abnormally taller and have significantly longer limbs than others.

  • Beals syndrome - Also known as congenital contractural arachnodactyly, the condition is caused by a mutation in fibrillin-2, which results in hip, knee, or elbow contracture. Although it shares many similarities with Marfan syndrome, the two conditions also have differences. One of which is that patients with Beals syndrome are unable to fully extend their joints, causing their muscles to become tight and short.

  • Osteogenesis imperfecta or brittle bone disease - This occurs when the body’s collagen supply is either of poor quality or inadequate.

  • Peyronie’s disease - Characterised by the presence of excessive collagen in the penis resulting in pain, erectile dysfunction, and abnormal curvature.

  • Stickler syndrome - Affects collagen types II and XI in the body resulting in underdeveloped bones in the middle of the face. It can also lead to joint issues and hearing problems.

Collagen diseases also occur when the immune system begins to attack the body’s healthy tissues by mistake, resulting in the inflammation of the body’s connective tissues.

Some of the more common types of autoimmune collagen diseases include:

  • Sjogren’s syndrome - A slowly progressing chronic disease that impairs the patient’s ability to secrete tears and saliva. It usually occurs together with rheumatoid arthritis, scleroderma, or lupus.

  • Lupus - Also known as systemic lupus erythematosus (SLE), this disease can affect almost all organ systems in the body due to the widespread inflammation of connective tissues.

  • Psoriatic arthritis - A chronic disease characterised by the inflammation of joints and skin.

  • Rheumatoid arthritis - The most common type of autoimmune arthritis characterised by the inflammation of membranes surrounding the joints. It causes stiffness, joint pain, and decreased joint movements. In some cases, the condition also affects the lungs, skin, and eyes.

  • Scleroderma - This occurs when immune cells that produce scar tissue becomes activated. The condition usually affects the skin, small blood vessels, and the internal organs.

A subtype of collagen disease is collagen vascular disease, which refers to disorders that affect the arteries.

Key Symptoms

The symptoms of different collagen diseases vary depending on the affected organ systems and specific gene defect that has caused the condition. However, most share the following symptoms:

  • Fatigue

  • Muscle weakness

  • Fever

  • Body aches

  • Joint pain

  • Skin rashes

Other than these common symptoms, patients may also experience signs unique to their specific condition.

For example, those with lupus typically suffer from shortness of breath, chest pain, dry eyes, headaches, and mouth ulcers. They also have an increased risk of stroke, miscarriage, and heart disease. Meanwhile, rheumatoid arthritis symptoms include pain and inflammation of connective tissues between joints, stiffness, and loss of range of motion.

Scleroderma, on the other hand, can produce varying signs and symptoms depending on which part of the body is affected. If the condition affects the skin, the hardening and tightening of patches of skin can be observed. The skin can also appear very shiny and the movement of the affected part may be restricted. If the digestive system is the one affected, patients often suffer from acid reflux and have problems absorbing enough nutrients from the food they eat.

Another collagen disease is called temporal arteritis. It is also known as giant cell arteritis, in which the large arteries become inflamed. This disease can result in scalp sensitivity, chronic headaches, jaw pain, and vision problems.

Mixed connective tissue diseases may also cause numbness of the extremities, swollen fingers and hands, and fever.

Who to See and Types of Treatment Available

Symptoms of collagen disease can be brought to the attention of a family doctor or general practitioner (GP). If collagen disease is suspected, the patient is referred to a rheumatologist, a doctor who specialises in the diagnosis and treatment of musculoskeletal diseases or conditions affecting the bones, connective tissues, joints, and muscles.

Available treatment options include:

  • Corticosteroids - Corticosteroid drugs are some of the most common medications used for the treatment of autoimmune disorders, including lupus and rheumatoid arthritis. They are designed to mimic the effects of hormones that the body produces to treat inflammation and suppress the immune system so it will not attack healthy tissues.

  • Immunosuppressants - Just like corticosteroids, immunosuppressants work by lowering the body’s immune response to prevent the body from attacking healthy tissues.

To retain or improve muscle mobility, patients are also often advised to undergo physical therapy and stay active by doing low-impact exercises.

The long-term prognosis for people suffering from collagen disease depends on their specific symptoms and access to treatment. Although collagen diseases are chronic conditions that cannot be cured, patients’ quality of life can be improved or maintained with continuous treatment that adequately addresses their symptoms.


  • Lampe AK, Bushby KMD. “Collagen VI related muscle disorders.” Journal of Medical Genetics. Volume 42, Issue 9.

  • Ellman P. “Pulmonary manifestations in the systemic collagen diseases.” Postgraduate Medical Journal. Volume 32, Issue 370.

  • Myllyharju J, Kivirikko KI. “Collagens and collagen-related diseases.” Annals of Medicine. Volume 33, 2001-Issue 1.

  • Callen JP. “Collagen vascular disease.” Journal of the American Academy of Dermatology. September 2004, Volume 51, Issue 3, Pages 427-439.

Share This Information: