MIXED CONNECTIVE

TISSUE DISEASE
&
OVERLAP SYNDROMES

Dr. Rana Atef Khashaba

TABLE OF CONTENTS

01 Connective Tissue Disease (CTD)

02 MIXED CONNECTIVE TISSUE DISEASE INTRO,
03 Causes and risk factors for and mixed CTD.
04 Symptoms and diagnosis of mixed CTD
05 Mixed CTD treatment
06 Mixed CTD prognosis
01
Connective
Tissue Disease
(CTD)
 Connective Tissue
Disease (CTD)
● Connective tissue disease is an autoimmune
disease where the body produces antibodies
against its own connective tissue, causing
inflammation.
● The ‘classic’ connective tissue diseases include:
Lupus
Rheumatoid arthritis
Scleroderma (or systemic sclerosis)
Dermatomyositis
● Each of these diseases has a typical presentation
with clinical findings, certain blood test
abnormalities and abnormal antibody patterns.
02
Mixed
Connective
Tissue Disease
(MCTD)
 Mixed Connective Tissue Disease (MCTD)
• MCTD patients have features of more than one type of rheumatic disease
(overlapping features of SLE, systemic sclerosis, rheumatoid arthritis and
dermatomyositis)

• Raynaud phenomenon, arthralgias, and myalgias are common.

• Swollen or puffy hands are a common early feature of this disease.

• A subset of antinuclear antibody (RNP autoantibodies) presents with high
titters.

• Unlike patients with SLE, renal or central nervous system disease is

uncommon.
 Mixed Connective Tissue Disease (MCTD)
• A key reason to identify this patient is pulmonary hypertension and
interstitial lung disease are major causes of mortality, and regular
screening for these manifestations is required.

• Some patients have features of more than one connective tissue disease
(eg, rheumatoid arthritis and SLE, SLE and systemic sclerosis) in the
absence of high-titer anti-RNP antibodies and are referred to as having
an “overlap syndrome.”

• Treatments are guided more by the distribution and severity of patients’

organ system involvement than by therapies specific to these overlap
syndromes
03
Causes and risk
factors for and
mixed CTD
 What are causes and risk factors for and
mixed CTD?

● The most significant causes and risk factors for developing these
conditions are certain gene patterns that are inherited.

● There is no known environmental toxin that has been shown to cause

MCTD.
04
Symptoms and
diagnosis of
mixed CTD
What are the symptoms of mixed CTD?
● The symptoms vary greatly from one individual to another.
● They include some or all of joint pain, joint swelling, skin rashes, kidney disease,
breathing problems, heartburn or swallowing problems, mouth ulcers, skin
tightening and thickening, muscle weakness, Raynaud’s phenomenon (colour
changes in the hands and feet on exposure to cold).

How are mixed CTD diagnosed?

Diagnosis of these disorders is made by putting together the patient’s symptoms,

examination findings and blood tests.
05
Mixed CTD
treatment
How are mixed CTD treated?
● The treatment is based on which features are causing symptoms.
● In general, treatment is often directed at damping down the inflammation
present in the tissues by using anti-inflammatory and immunosuppressant
medications. These medications include non-steroidal anti-inflammatory drugs
(NSAIDs), steroids (such as prednisolone), antimalarial drugs
(hydroxychloroquine), and sometimes other immune suppressant drugs (such as
methotrexate, azathioprine, cyclophosphamide and TNF inhibitors).

● Treatment for high blood pressure may occasionally be needed to prevent

damage to the kidneys.
● Physical therapy (physiotherapy) for certain joints is sometimes helpful.
● Heartburn can be prevented by elevating the head of the bed and can be
relieved with omeprazole or lansoprazole and antacids.

● For Raynaud's phenomenon, patients are recommended to use hand and body
warming techniques while protecting the fingers from injury.
06
Mixed CTD
prognosis
 What is the prognosis of mixed CTD?

● People with mixed CTD are less likely to develop serious kidney or brain
involvement than those with lupus.
● However lung problems are more likely so the doctor should request regular
screening tests (echocardiogram and lung function tests) for this complication.
Giant cell
arteritis &
Fibromyalgia
 Giant cell arteritis

● Giant cell arteritis is inflammation of the arteries that can

cause sudden blindness in one or both eyes.

● New onset headache and vision loss are the most common
symptoms.

● People over the age of 50 years are at risk of developing the

disease, for reasons unknown.
Giant cell arteritis
Fibromyalgia
● Fibromyalgia is a disorder characterized by widespread musculoskeletal pain
accompanied by fatigue, sleep, memory and mood issues.

● Researchers believe that fibromyalgia amplifies painful sensations by affecting

the way of the central nervous system processes the pain messages signals carried
around the body

● signs and symptoms of fibromyalgia

❑ Pain and stiffness all over the body.
❑ Fatigue and tiredness.
❑ Depression and anxiety.
❑ Sleep problems.
❑ Problems with thinking, memory, and concentration.
❑ Headaches, including migraines.
06
Thank you