What is Collagen Vascular Disease?: Types, Symptoms & Treatment

What is collagen vascular disease?

Connective tissue is one of the four basic types of tissues found in the body, with an extensive extracellular matrix. Cells of connective tissue include mast cells, macrophages, leucocytes, fibroblasts, and adipocytes. Connective tissue is vital for supporting and protecting various internal organs. Unfortunately, when the body’s own immune system attacks these connective tissues, patients will then be diagnosed with collagen vascular disease—sometimes known as connective tissue disease. Collagen vascular disease can also happen when a patient inherits a defective gene that result in weakened or inflamed connective tissues.

What are the types of collagen vascular disease?

Collagen vascular disease can be categorised into two major types which are inherited connective tissue disorders and autoimmune connective tissue disorders. The former occurs when patients inherit mutated genes from their parents; some examples of inherited connective tissue disorders include:

  • Marfan Syndrome (MFS): This is an autosomal dominant medical disorder that is caused by defective fibrillin synthesis. It usually affects the heart, blood vessels, lungs, eyes, bones, and ligaments. Patients diagnosed with Marfan Syndrome tend to be abnormally tall, thin with long arms and legs. They also typically have flexible joints and scoliosis.
  • Ehlers–Danlos Syndrome (EDS): This medical condition occurs due to abnormal synthesis of collagen (Type I or III), which results in progressive deterioration of collagen. Patients diagnosed with this disorder present symptoms like stretchy skin, loose joints, and abnormal scar formation. While it could either be an autosomal dominant or recessive medical condition, the specific gene affected determines the specific type of EDS.
  • Osteogenesis Imperfecta: Also known as brittle bone disease, this autosomal dominant disease is usually due to an inadequate amount of Type I collagen fibres. Diagnosed patients exhibit symptoms like brittle bones, dental problems, blue tinge to the sclera, short stature, and hearing loss.

Collagen vascular disease can also develop when one’s own immune system mistakenly attacks the body’s healthy connective tissues. Autoimmune connective tissue disorders may be triggered by both genetic and environmental causes. Some examples of autoimmune collagen vascular diseases include:

  • Systemic Lupus Erythematous (SLE): Commonly known as lupus, this chronic debilitating disorder is characterized by severe fatigue, swollen and painful joints, red skin rashes, fever, mouth ulcers, and swollen lymph nodes. Though the exact cause remains unknown, some of the risk factors of SLE are female sex hormones, vitamin D deficiency, and smoking.
  • Rheumatoid Arthritis: It is a chronic autoimmune disorder that primarily affects the joints, especially the joints in the wrists and hands. Patients diagnosed with this disorder display symptoms like warm, swollen, and painful joints. Most often than not, the joint deformities occur symmetrically in both sides of the body.
  • Sjögren's Syndrome: This is a chronic and progressive disorder which affects moisture-producing glands in the body such as the sweat and salivary glands. Patients suffering from this medical condition typically experience dry mouth, dry eye, dry skin, vaginal dryness, numbness in the limbs, joint pain, and thyroid problems.

What are the symptoms of collagen vascular disease?

As stated earlier, each type of collagen vascular disorder presents its own distinctive set of symptoms. That being said, most of these diseases share the same general symptoms such as joint pain, muscle weakness and aches, skin rash, fatigue, and fever. Changes in the skin are one of the initial symptoms of collagen vascular disease and can be helpful in correctly diagnosing the particular type of disease before it worsens.

What are the treatment options for collagen vascular disease?

The appropriate treatment methods to manage the condition depend on the type of collagen vascular disease that the patient is diagnosed with and the severity of the symptoms experienced. Most of the symptoms can be adequately managed with the following treatment options:

  • Immunosuppressants: As the name suggest, immunosuppressants alleviate the severity of the condition by suppressing the body’s immune system. Hence, fewer healthy cells will be harmed by the immune system. However, a patient is at a higher risk of contracting common infectious diseases.
  • Corticosteroids: These are a class of steroid drugs with potent anti-inflammatory activities. Corticosteroids normalise the overactive immune system and reduce pain and inflammation.
  • Lifestyle Modifications: Patients are strongly advised to adopt a healthy lifestyle such as stopping smoking, avoiding the sun, and other known triggers. They should also eat a healthy diet based on their health status and engage in regular physical activities.
  • Physical Therapy: Also known as physiotherapy, this treatment approach helps patients to maintain their mobility while reducing pain associated with joint movements.
  • Joint Replacements: Patients whose joints are damaged beyond repair can then opt for joint replacement surgeries. Prosthetic joints can help to restore patients’ mobility and quality of life.