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Connective Tissue Diseases Are Difficult to Diagnose


How Connective Tissue Works

This is a rather complex autoimmune disorder encompassing several diseases.

Tissues connecting all the structures in your body hold your body together. Connective tissues are made from two proteins:

  • Collagen: A protein found in the tendons, ligaments, skin, cornea, cartilage, bone, and blood vessels.
  • Elastin: A stretchy protein resembling a rubber band. It is a major component of ligaments and skin.

When you have connective tissue disorder, collagen and elastin become inflamed, harming the connected body parts.

Types of Autoimmune Diseases

There are over 200 different types of connective tissue diseases. The CTD autoimmune diseases include but are not limited to:

  • Rheumatoid Arthritis (RA) — a more common connective tissue disease, often inherited (71% are women), which causes immune cells to attack and inflame joint membranes. It may attack the heart, lungs, and eyes.
  • Scleroderma — causes scar tissue to form in the skin, internal organs, and small blood vessels, affecting three times more women than men.
  • Granulomatosis with Polyangiitis (GPA) — a form of vasculitis, which affects blood vessels for the nose, lungs, kidneys, and other organs.
  • Churg-Strauss Syndrome — a vasculitis affecting cells in the blood vessels of the lungs.
  • Systemic Lupus Erythematosus (SLE) — causes inflammation in every organ of the body, from the brain, skin, and blood to the lungs (9 times more common in women)
  • Microscopic Polyangiitis (MPA) — a rare condition affecting blood vessels in organs.
  • Polymyositis/dermatomyositis —a disease-causing inflammation and degeneration of the muscles, which can make climbing stairs difficult.
  • Mixed connective tissue disease (MCTD) — has some but not all features of various connective tissue diseases, such as SLE, scleroderma, polymyositis, and possibly Reynaud’s syndrome.
  • Undifferentiated connective tissue disease(s) — has some of the characteristics of connective tissue diseases but does not meet the guidelines of connective tissue disease.

Many people will also often have Sjogren’s syndrome.

Lupus Rash

Lupus Rash

Causes of Connective Tissue Disorder

There is a strong genetic component to the disorder, but a few other possible causes include:

  • Exposure to toxic chemicals, such as those found in air pollution and cigarette smoke
  • Exposure to ultraviolet light
  • Inadequate nutrition, including lack of vitamins D and C
  • Infections

A Rheumatologist Explains: Mixed Connected Tissue Disorde

Symptoms of Connective Tissue Disorder

The symptoms don’t typically appear all at once, but they often occur over a number of years. That makes diagnosis complicated. Many parts of the body can be affected.

  • There is a general feeling of being unwell, such as fatigue or a mild fever.
  • Fingers and/or toes can be cold and numb (Raynaud’s phenomenon), where the fingers or toes get cold or numb, turning white or publish blue.
  • Fingers or hands are swollen.
  • Joints can become inflamed, swollen, and deformed, causing muscle and joint pain.
  • There may be a rash of red or reddish-brown patches over the knuckles.
  • CTD can affect the lungs, skin, heart, and blood vessels.

Some of these diseases can affect the head and face, making the eyes and ears look different. They can also cause some people to be very short or to become very tall.

A more serious problem may be difficulty breathing, extreme shortness of breath, coughing up bloody phlegm, or even respiratory failure.

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A physician will typically begin with a medical history and family history, then do a physical exam. This disorder is often difficult to diagnose as the symptoms can be found in multiple diseases.

They will often order magnetic resonance imaging (MRI) of the brain and spinal cord. They may want to do a lumbar puncture, also.

Other possible tests include:

  • Tests for markers of inflammation, such as C-reactive protein and Erythrocyte sedimentation rate (ESR)
  • Tests for antibodies (ANA), especially for autoimmune conditions, as it is positive 97% of the time with autoimmune disorders like lupus
  • Tests for dry eyes or dry mouth
  • Blood test and urinalysis
  • Tissue biopsy (muscle or nerve)
  • Chest x-ray
  • Electromyogram to record the signals between muscles and nerves
Rheumatoid Arthritis

Rheumatoid Arthritis

Treatments for CTD

The treatment depends on which autoimmune disorders were found with the testing and your response to any medication.

Common treatments include:

  • Nonsteroidal anti-inflammatory drugs (NSAIDs) — help relieve pain and inflammation, like ibuprofen or Advil.
  • Corticosteroids — help by stopping the immune system from attacking your cells, and they prevent inflammation, like prednisone (Deltasone, Rayos).
  • Disease-modifying anti-rheumatic drugs (DMARDs) — antimalarial drugs and methotrexate can be used to suppress the underlying overactive immune response to help manage symptoms and prevent a worsening of the disease, like mofetil (CellCept®).
  • Immunosuppressants — also work to suppress an overactive immune system and manage symptoms, and there are numerous types.
  • Calcium channel blockers — help to relax the muscles in the walls of blood vessels, like Amlodipine (Norvasc®) or Diltiazem (Cardiazem®, Tiazac®, Tiazac® XC )
  • Pulmonary hypertension medications — open the blood vessels in the lungs affected by autoimmune inflammation, allowing blood to flow more easily (Epoprostenol (Flolan), Revatio, or Bosentan (Tracleer).

Treatments might include vitamin supplements and physical therapy. You will probably have a regular schedule of appointments with your doctor. Sometimes seeing other specialists may be necessary.

Physical aids like a cane or a brace may be necessary. The American Disabilities Act does insure you can request proper lighting at work, as fluorescent lighting is not healthy.

Wrist support may be required if you do a lot of computer work; it may also be helpful to find a chair that is more comfortable for you. I would certainly suggest you check into what your company might be willing to do to accommodate your disability.

Since these conditions can affect a patient’s daily life, physical and occupational therapy may both be used to manage symptoms and help patients adjust to living and working situations. Some patients may require pain management.

Choosing the right treatment requires careful consideration of the risks and benefits, along with close collaboration with a neurologist with experience in treating the disease.

Many connective tissue diseases have remissions (periods of no symptoms) and flares (periods of increased symptoms).

Other things you can do to help control symptoms of mixed connective tissue disease include:

  • Protecting hands from the cold. Wearing gloves and taking other measures to keep your hands warm can help prevent Raynaud’s phenomenon.
  • Not smoking. Smoking causes blood vessels to narrow, which can worsen the effects of Raynaud’s phenomenon.
  • Reducing stress. Raynaud’s phenomenon is often triggered by stress. Relaxation techniques such as slowing and focusing on your breathing can help reduce your stress levels.

What are the different types of connective tissue disease and the associated risk of PH?

Final Thoughts

This is a very difficult disease for many people. I developed this disease, which began with systemic lupus. I am no longer experiencing flare, but I had some hard years when I was on some very potent medications. I used to inject myself with methotrexate weekly.

Up to 90% of the cases are females between 32 and 44 years old. Worldwide statistics show two people per 100,000 have CTD. Rheumatoid arthritis is one of the more common diseases.

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2022 Pamela Oglesby

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