Connective tissue disease clinical diagnosis symptoms



by Nathan Wei, MD, FACP, FACR

Nathan Wei is a nationally known board-certified rheumatologist and author of the Second Opinion Arthritis Treatment Kit. It's available exclusively at this website... not available in stores.

Click here: Second Opinion Arthritis Treatment Kit




Many connective-tissue diseases share common signs and symptoms, which often makes the diagnosis of a specific rheumatic disease difficult.

Rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM), dermatomyositis (DM), mixed connective-tissue disease (MCTD), and Sjögren's syndrome (SS) are all autoimmune mediated conditions. They can all present with similar clinical features, particularly during the first 12 months of symptoms.

The following information is from the Arthritis Foundation, the National Institutes of Health, and the American College of Rheumatology


Isolated Raynaud phenomenon (fingers turning white), inflammatory polyarthritis (swollen inflamed joints), anemia (low red blood cell count), interstitial lung disease (scarring in the lungs), or pleuropericarditis (inflammation of the lining of the lungs and heart) may occur without an obvious diagnosis being found.

Screening blood tests, such as rheumatoid factor (RF) or antinuclear antibody (ANA), may be positive or negative. Patients who present with symptoms, positive blood tests, or physical findings consistent with a connective-tissue disease but not fulfilling established classification criteria for a specific disease are given the label, "undifferentiated connective-tissue disease" (UCTD).

UCTD may remit permanently, or it can be a chronic disease involving multiple organ systems.

The presence of autoantibodies commonly precedes disease onset, suggesting they may be the cause of the disease or may only be clinical markers of the disease process. Like most connective-tissue diseases, the theory and research have been concentrated on genetics, immune cell abnormalities, and environmental triggers, such as ultraviolet light or infection.

Little information exists on the frequency, incidence, prevalence, or other factors. What is known is that the diagnosis of UCTD is relatively common even after monitoring patients for as long as 10 years.

Overall survival rates in patients with UCTD are better than patients with RA or SLE.

Mortality and morbidity are directly related to the extent of end organ involvement such as progressive interstitial lung disease, pulmonary hypertension, or blood vessel disease. Thrombosis (blood clots) related to the presence of antiphospholipid antibodies can occur but is rare.

UCTD is more common in women.

The onset of UCTD is similar to most connective-tissue diseases, peaking in the middle years of life.

Patients may present with constitutional symptoms, such as fatigue, fever, or weight loss, before developing more organ specific symptoms. The most common symptoms include joint pains, arthritis affecting multiple joints, Raynaud syndrome, sores in the mouth, and dry eyes and dry mouth. It is unusual for a patient with UCTD to have major organ involvement. However, patients may manifest many signs or symptoms observed with other connective-tissue diseases such as:

•Skin - rash across the cheeks, ulcers at the tips of the fingers,red and purple spots, hair loss, skin tightening, hives, or rash developing after sunlight exposure

•Eyes - Dry eyes, conjunctivitis, or inflammation and redness of the eyes

•Salivary glands - Dry mouth or enlargement of the glands that make saliva

•Enlarged lymph nodes and spleen

•Lungs - Shortness of breath, cough, wheezing, or sharp chest pain made worse by taking a deep breath

•Heart - Chest pain, shortness of breath, shortness of breath when lying down, edema- swelling of the legs from fluid accumulation, or inflammation of the lining of the sack that holds the heart

•Raynaud phenomenon- Color changes in the fingers, history of blood clots, history of frequent miscarriages, or vasculitis (inflammation of blood vessels)

•Gastrointestinal - Appetite loss, swallowing difficulty, heartburn, abdominal pain, vomiting, nausea, vomiting blood, tarry stools because of bleeding in the bowel, jaundice, or diarrhea

•Genitalia - Painful urination

•Muscle weakness, muscle pain, or inflammation of muscles

•Joints - joint pains and arthritis

•Brain - History of seizures, nerve damage or altered mental status


The potential physical findings in UCTD:

•Skin – red spots due to dilated blood vessels,purple spots, small red spots from bleeding, finger ulcers or scars, swelling of the fingers, calcium deposits under the skin, facial rash, scaly rash, painful swollen bumps on the shin, red knuckles, redness around the nailbed, hair loss, purple eyelids, lumps under the skin

•Eye - Conjunctivitis, inflammation involving different parts of the eye or dry eyes

•Salivary glands - dry mouth or salivary gland enlargement

•Swollen lympn nodes and spleen

•Lungs - wheezing, fluid in the lungs

•Heart - Enlarged heart, murmur, edema, skipped beats

•Vascular – purple or blue fingers, absent pulses, arterial and/or venous clots

•Gastrointestinal – big liver, reflux, esophagus not working properly, or gut not absorbing nutrients

•Genitalia - Ulcerations, rashes, or discharge

•Muscles - Muscle tenderness, muscle atrophy, or muscle weakness

•Joints - Joint tenderness, swelling, effusion, inflammation, or deformity

•Nervous system - nerve palsy, peripheral neuropathy, entrapment neuropathy, psychosis

SLE is a classic autoimmune disease characterized by antinuclear antibodies and multiple organ involvement. The peak incidence of SLE is in people aged 15-40 years, with a female-to-male ratio of at least 5:1. A patient with SLE usually has 4 or more of the 11 classification criteria (American College of Rheumatology) for diagnosis. The criteria include malar rash, discoid rash, photosensitivity, oral ulcers, arthritis, serositis, renal disorder, neurologic disorder, hematologic disorder, immunologic disorder, and positive ANA.

SSc (scleroderma) is an uncommon connective-tissue disease involving both the skin and internal organs. This most often is diagnosed in people aged 35-64 years, with a female-to-male ratio of 3:1. A patient will be classified as having SSc if one major or 2 or more minor criteria are present. The major criterion is scleroderma proximal to the metacarpophalangeal or metatarsophalangeal joints. Minor criteria include sclerodactyly, digital pitting scars, or bibasilar pulmonary fibrosis. Virtually all patients with SSc have Raynaud phenomenon.

The diagnosis of polymyositis or dermatomysositis is uncommon, with an incidence range from 2-10 cases per million. A bimodal age distribution exists, with peaks at ages 10-15 years and at ages 45-60 years. The overall female-to-male ratio is 3:1. The 5 possible criteria for diagnosis are symmetrical muscle weakness, elevation of muscle enzymes, electromyographic evidence, muscle biopsy evidence, and dermatologic features. A definite diagnosis of PM must include 4 criteria without a rash. The diagnosis of DM is made when 3 criteria are present plus the rash.

MCTD is characterized by clinical manifestations that are observed in SLE, SSc, and/or PM. The incidence of MCTD is considered less frequent than SLE but occurs more frequently than SSc or PM. It is much more common in women, with a ratio of 15:1, and occurs at a mean age of 37 years. The most common features are arthritis, sclerodactyly, Raynaud phenomenon, esophageal dysmotility, and myositis. In addition to a positive ANA, patients with MCTD have high titer antibodies to ribonucleoprotein (RNP).

SS (sicca syndrome, ie. Sjogren's disease) results from lymphocytic infiltration of exocrine glands- the glands that make secretions. The frequency of SS is similar to SLE in that it occurs in 1 per 1000 people. Primary SS is diagnosed predominantly in women, with a female-to-male ratio of 9:1 and an age range of 30-50 years. The classic clinical presentation for SS is the combination of dry eyes (keratoconjunctiva sicca) and dry mouth (xerostomia). The criteria for diagnosis of primary SS include symptoms and objective signs of ocular dryness, symptoms and objective signs of dry mouth, and serologic evidence of a systemic autoimmunity by the presence of RF, ANA, or antibodies to SS-A (Ro) or SS-B (La). Primary SS may involve multiple organs other than the eyes and mouth. Secondary SS occurs when the symptoms and signs of SS are present with another connective-tissue disease and most frequently with RA.

Rheumatoid arthritis (RA) is a chronic inflammatory systemic disease primarily characterized by joint involvement. The prevalence of RA increases with age and has a peak incidence in persons aged 40-60 years, with a female-to-male ratio of 3:1. A patient has RA if he or she satisfies at least 4 of 7 classification criteria. The criteria include morning stiffness for at least 1 hour, arthritis of 3 or more joint areas, arthritis of the hands, symmetric arthritis, rheumatoid nodules, serum RF, serum anti-CCP, and radiographic changes. RF is found in the serum of approximately 85% of patients with RA.

An individual patient may satisfy diagnostic criteria for 2 or more connective-tissue diseases. This is referred to as an overlap syndrome. Examples include an overlap of SLE and RA, MCTD and PM, and SSc and MCTD.



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