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Connective Tissue Disorders
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Bones Joints Muscles

Connective Tissue Disorders

Connective tissue acts as a "cellular glue" that provides shape and strength to the body, and there are over 200 disorders that can impact it.

Overview

Connective tissue supports various parts of the body, including the skin, eyes, and heart. It is composed of many types of proteins and helps tissues perform their work. Cartilage and fat are specific types of connective tissue.

Types of Disorders

There are over 200 disorders that impact connective tissue, categorized into several types:

  • Genetic disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta
  • Autoimmune disorders, such as lupus and scleroderma
  • Cancers, such as certain types of soft tissue sarcoma

Each disorder presents with its own unique symptoms and requires a specific treatment approach.

Frequently Asked Questions

Patients with Marfan or Loeys‑Dietz typically get an echocardiogram every 6–12 months; those with vascular Ehlers‑Danlos need imaging of major arteries annually. Annual comprehensive eye exams are recommended for all connective‑tissue disorders because of risk for lens dislocation or retinal detachment.
Blood tests (ANA, anti‑dsDNA, anti‑centromere, anti‑Scl‑70) are supportive but not definitive. Diagnosis requires a combination of clinical criteria, imaging (e.g., skin thickening on ultrasound for scleroderma), and sometimes tissue biopsy. A positive antibody panel without symptoms does not confirm disease.
Look for unusually flexible joints, frequent joint dislocations, stretchy or translucent skin, unusually tall stature with long limbs, chest wall deformities, or a history of aortic dilation in family members. Early cardiovascular screening (echocardiogram) and a detailed family pedigree are key clues.
Gentle low‑impact exercise (swimming, cycling) to maintain muscle tone without stressing joints, avoiding heavy lifting or contact sports that risk joint dislocation, using protective braces when needed, maintaining optimal blood pressure, and staying hydrated to support skin elasticity. Smoking cessation is especially important because it accelerates vascular damage.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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