Connective Tissue Disease

Published: 18 Jun 2025

ICD9: 710.9      ICD10: L94.9      ICD11: 4A43

Connective tissue disease (CTD) refers to a group of disorders affecting the tissues that support and connect organs and other tissues in the body.
These tissues include:

Collagen: The most abundant protein in the body, providing strength and structure.
Elastin: Allows tissues to stretch and recoil.
Cartilage: Cushions joints and supports other structures.
Bone: Provides skeletal support.
Fat: Stores energy and provides insulation.
Blood: Transports oxygen and nutrients.
Lymph: Helps remove waste and fight infection.

Key Characteristics of CTDs:

Inflammation: Many CTDs involve inflammation of the affected tissues.
Autoimmunity: Many CTDs are autoimmune diseases, meaning the immune system mistakenly attacks the body's own tissues.
Systemic nature: CTDs often affect multiple organ systems.

Common Types of Connective Tissue Diseases:

Systemic Lupus Erythematosus (SLE or Lupus): Can affect many organs, including the skin, joints, kidneys, heart, and brain.
Rheumatoid Arthritis (RA): Primarily affects the joints, causing inflammation, pain, and stiffness.
Scleroderma (Systemic Sclerosis): Causes thickening and hardening of the skin and internal organs.
Sjögren's Syndrome: Affects moisture-producing glands, leading to dry eyes and dry mouth.
Polymyositis and Dermatomyositis: Cause muscle inflammation and weakness. Dermatomyositis also involves a skin rash.
Mixed Connective Tissue Disease (MCTD): Has overlapping features of lupus, scleroderma, and polymyositis.
Vasculitis: Inflammation of blood vessels. There are many different types of vasculitis.
Ehlers-Danlos Syndrome (EDS): A group of inherited disorders affecting collagen, leading to joint hypermobility, skin elasticity, and tissue fragility.
Marfan Syndrome: A genetic disorder affecting connective tissue, particularly the heart, blood vessels, eyes, and skeleton.
Undifferentiated Connective Tissue Disease (UCTD): Symptoms are suggestive of a connective tissue disease, but do not meet the full criteria for a specific diagnosis.

Symptoms:

Symptoms of CTDs can vary widely depending on the specific disease and the organs involved. Common symptoms include:

Joint pain and stiffness
Muscle pain and weakness
Fatigue
Skin rashes
Dry eyes and dry mouth
Raynaud's phenomenon (fingers and toes turning white or blue in response to cold or stress)
Swelling
Fever

Causes:

The exact causes of many CTDs are unknown. However, factors that may contribute include:

Genetics: Some CTDs have a genetic component.
Environmental factors: Exposure to certain environmental triggers, such as infections or toxins, may play a role.
Autoimmunity: The immune system attacking the body's own tissues.

Diagnosis:

Diagnosing CTDs can be challenging because the symptoms can be vague and overlap with other conditions. Diagnosis typically involves:

Medical history and physical examination: The doctor will ask about your symptoms and medical history and perform a physical exam.
Blood tests: Blood tests can help detect inflammation, autoimmune antibodies, and other markers of CTDs.
Imaging tests: X-rays, MRIs, and other imaging tests can help assess the affected organs.
Biopsy: A biopsy (taking a small tissue sample for examination under a microscope) may be needed to confirm the diagnosis.

Treatment:

There is often no cure for many CTDs, but treatment can help manage symptoms, slow disease progression, and prevent complications. Treatment options may include:

Medications:
Pain relievers: Over-the-counter or prescription pain relievers can help manage pain.
NSAIDs (Nonsteroidal anti-inflammatory drugs): Reduce inflammation and pain.
Corticosteroids: Powerful anti-inflammatory drugs.
DMARDs (Disease-modifying antirheumatic drugs): Slow disease progression and reduce inflammation.
Biologic agents: Target specific components of the immune system to reduce inflammation.
Immunosuppressants: Suppress the immune system.
Physical therapy: Can help improve strength, flexibility, and range of motion.
Occupational therapy: Can help adapt to daily activities and reduce strain on joints.
Surgery: May be needed to correct joint damage or other complications.
Lifestyle modifications: Including regular exercise, a healthy diet, and stress management, can help improve overall health and well-being.

Prognosis:

The prognosis for CTDs varies depending on the specific disease, its severity, and the individual's response to treatment. Some CTDs can be well-managed with treatment, while others can be more severe and lead to significant complications.

Important Considerations:

If you suspect you have a CTD, it's essential to see a doctor for diagnosis and treatment.
Early diagnosis and treatment can help improve the prognosis.
Living with a CTD can be challenging, but support groups and other resources can help people cope with the condition.
Research on CTDs is ongoing, and new treatments are being developed.

This information is for general knowledge only and should not be considered medical advice. Always consult with a qualified healthcare professional for diagnosis and treatment of any medical condition.