Connective tissue disease clinical diagnosis symptoms
UCTD may remit permanently, or it can be a chronic disease involving many organ systems. How UCTD develops is unclear. The presence of autoantibodies commonly precedes disease onset, suggesting that they are not secondary to tissue damage or disease expression. Therefore, autoantibodies may be the cause or may only be clinical markers of the disease process. Like most connective-tissue diseases, the theory and research have been concentrated on genetics, T- and B-cell abnormalities, and environmental triggers, such as ultraviolet light or infection. Little information exists on the frequency and/or epidemiology of UCTD. What is known is that the diagnosis of UCTD is relatively common even after monitoring patients for as long as 10 years. Most patients with UCTD diagnosed after 12 months of the onset of symptoms remain undifferentiated after 10 years. In general, 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 disabling organ involvement such as progressive interstitial lung disease, pulmonary hypertension, or vascular complications. Thrombosis (blood clots) related to the presence of antiphospholipid antibodies can occur but is rare. A female predominance exists similar to that observed in the common connective-tissue diseases such as RA and SLE. The onset of UCTD is similar to most connective-tissue diseases, peaking in the middle years of life. Patients may present with systemic symptoms, such as fatigue, fever, or weight loss, before developing more organ specific symptoms. The most common symptoms include arthralgias (joint pains), unexplained or undifferentiated polyarthritis (arthritis affecting multiple joints), Raynaud syndrome, mucocutaneous manifestations (sores in the mouth), and sicca symptoms (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 - Malar rash (rash across the cheeks), digital skin ulcers (ulcers at the tips of the fingers), purpura (red and purple spots), alopecia (hair loss), skin tightening, urticaria (hives), or photosensitivity (rash developing after sunlight exposure) • Eyes - Dry eyes, conjunctivitis, or ocular inflammation (inflammation and redness of the eyes) • Salivary glands - Dry mouth or salivary gland enlargement (enlargement of the glands that make saliva) • Reticuloendothelial - Lymphadenopathy or splenomegaly (enlarged lymph nodes and spleen) • Lungs - Dyspnea, orthopnea, cough, wheezing, or pleuritic chest pain (sharp chest pain made worse by taking a deep breath) • Heart - Angina, atypical chest pain, dyspnea (shortness of breath), orthopnea (shortness of breath when lying down), dependent edema (swelling of the legs from fluid accumulation), or pericarditis (inflammation of the lining of the sack that holds the heart) • Vascular - Raynaud phenomenon (exaggerated vascular response to cold temperatures leading to episodic color changes in the skin of the digits), history of arterial or venous thrombosis (blood clots), history of frequent miscarriages, or vasculitis (inflammation of blood vessels) • Gastrointestinal - Anorexia, dysphagia (difficulty swallowing), dyspepsia (heartburn), abdominal pain, vomiting, nausea, hematemesis (vomiting blood), melena (tarry stools because of bleeding in the bowel), jaundice, or diarrhea • Genitalia - Urethral discharge or dysuria (painful urination) • Muscles - Muscle weakness, muscle pain, or history of myositis (inflammation of muscles) • Joints - Arthralgia or arthritis • Nervous system - History of seizures, neuropathy (nerve damage) or altered mental status Physical findings can be limited or may involve many organs. The potential physical manifestations of UCTD are best described by organ systems. • Skin – Telangiectasia (red spots due to dilated blood vessels), purpura (purple spots), petechiae (small red spots from bleeding), digital ulcers or scars, sclerodactyly (swelling of the fingers), calcinosis (calcium deposits under the skin), malar rash, discoid rash (scaly rash sometimes found in lupus), erythema nodosum (painful swollen bumps on the shin), erythematous knuckle pads (red knuckles), periungual erythema (redness around the nailbed), alopecia, heliotrope eyelids (purple eyelids), subcutaneous nodules (lumps under the skin) • Eye - Conjunctivitis, uveitis, iritis,(inflammation involving different parts of the eye) or keratoconjunctiva sicca (dry eyes) • Salivary glands - Xerostomia (dry mouth)or salivary gland enlargement • Reticuloendothelial - Lymphadenopathy or splenomegaly (swollen lympn nodes and spleen) • Lungs - wheezing, pleural effusion (fluid in the lungs) • Heart - Enlarged heart, murmur, dependent edema, arrhythmia (skipped beats) • Vascular – Acrocyanosis (purple or blue fingers), absent pulses, arterial and/or venous thrombosis • Gastrointestinal – Hepatomegaly (big liver), gastroesophageal disease, esophageal dysmotility (esophagus not working properly), or malabsorption syndromes (gut not absorbing nutrients) • Genitalia - Ulcerations, rashes, or discharge • Muscles - Muscle tenderness, muscle atrophy, or proximal muscle weakness • Joints - Joint tenderness, swelling, effusion, synovitis (inflammation), or deformity • Nervous system - Cranial nerve palsy, peripheral motor neuropathy, sensory neuropathy, entrapment neuropathy, psychosis, or personality change
Patients with possible UCTD who present with symptoms at an older age and who have Raynaud phenomenon with abnormal nailfold microscopy, and the presence of ANAs are more likely to progress to a well-defined connective-tissue disease. SLE is a classic autoimmune disease characterized by antinuclear antibodies and multiorgan 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 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 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 PM/DM 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 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 results from lymphocytic infiltration of exocrine glands. 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.
RA is a chronic inflammatory systemic disease primarily characterized by diarthrodial 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, 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.
|
