Materiały źródłowe

• #1 Newly Diagnosed – National Scleroderma Foundation

  https://scleroderma.org/newly-diagnosed/

  A new diagnosis of scleroderma doesnt have to be overwhelming, even though the disease is complex. […] Since the symptoms of scleroderma are similar to those of other autoimmune diseases, diagnosis is difficult. There also may be many misdiagnosed or undiagnosed cases. […] Diagnosis of systemic sclerosis (SSc) may be very difficult, particularly in its early stages. Many of its symptoms are common to, and may overlap with, those of other diseases, especially other autoimmune connective tissue diseases such as rheumatoid arthritis and lupus. […] While SSc can often be suspected from its more visible symptoms, no single test can prove its presence. […] The American College of Rheumatology along with its European counterpart (European League of Associations for Rheumatology, EULAR) recently revised the classification criteria for SSc to help doctors make more accurate and early diagnosis.

• #2 Scleroderma – getting diagnosed | SRUK

  https://www.sruk.co.uk/scleroderma/scleroderma-getting-diagnosed/

  Scleroderma can take many different forms and affect different parts of the body, which can make it difficult to diagnose. […] If you experience symptoms of Raynaud’s or Scleroderma it’s important to get an appointment with your GP as soon as possible to get yourself booked into the NHS system as it can take time to get appointments and to get diagnosed. […] After a thorough physical exam by your GP including Raynaud’s tests as Raynaud’s is one symptom of scleroderma, you may be referred to a consultant or specialist for further tests, including tests for scleroderma. […] The first step is to have an antinuclear antibodies (ANA) blood test. This test checks for an overactive immune system, which is common in people with autoimmune conditions such as scleroderma. […] If a conclusive result cannot be given the doctor may remove a small tissue sample (biopsy) of your affected skin so that it can be examined in the laboratory for abnormalities.

• #3 Clinical manifestations and diagnosis of systemic sclerosis (scleroderma) in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-systemic-sclerosis-scleroderma-in-adults

  Clinical manifestations and diagnosis of systemic sclerosis (scleroderma) in adults […] The diagnosis of SSc and related disorders is based primarily upon the presence of characteristic clinical findings and supported by specific serologic abnormalities. […] This topic will review the clinical manifestations and diagnosis of SSc in adults. […] SSc is a heterogeneous disease, which is reflected by a broad range of organ involvement, disease progression and severity, and outcomes. […] EVALUATION FOR SUSPECTED SYSTEMIC SCLEROSIS includes Physical examination, Laboratory testing, Additional studies, Skin biopsy in selected cases. […] DIAGNOSIS includes Systemic sclerosis, Systemic sclerosis sine scleroderma, Systemic sclerosis overlap syndrome.

• #4 Scleroderma: Diagnosis, Treatment, and Steps to Take

  https://www.niams.nih.gov/health-topics/scleroderma/diagnosis-treatment-and-steps-to-take

  It can be difficult for doctors to diagnose scleroderma because the symptoms vary from person to person and are similar to other diseases. There is no single test to diagnose the disease; instead doctors use a combination of the following to help diagnose scleroderma. Your doctor may: […] Your doctor may recommend additional testing such as: […] To look for problems with internal organs, such as the heart, lungs, or kidneys, your doctor may order additional testing. Early diagnosis of organ involvement helps doctors treat and manage the disease. Testing may include: […] Regular dental care is important because scleroderma can make your mouth dry and damage connective tissues in your mouth, speeding up tooth decay and causing your teeth to become loose. […] Follow up regularly with your doctor for evaluation of your lung function. This may include standard lung function tests, which measure your lung volumes to monitor the course of lung fibrosis. Checking for pulmonary hypertension early helps doctors manage and treat the condition, even before you may notice symptoms.

• #5 Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis | Clinical Focus | Quest Diagnostics Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis

  https://testdirectory.questdiagnostics.com/test/test-guides/CF-SystemicSclerosis/systemic-sclerosis-laboratory-markers-for-diagnosis-and-prognosis

  Systemic sclerosis (SSc) is a chronic, multisystem, heterogeneous autoimmune disease. Individuals with SSc have a mortality rate approximately 2.8 times that of the general population. In the United States, the incidence is approximately 15 cases per 100,000 person-years. The disease is characterized by inflammation, vasculopathy, and progressive fibrosis of the skin and internal organs. SSc is frequently referred to as scleroderma; however, scleroderma includes SSc and localized forms of scleroderma that affect only the skin. […] Early treatment of SSc can improve outcomes, so prompt diagnosis is important. However, diagnosis can be challenging because many patients present with nonspecific symptoms such as Raynaud phenomenon, gastroesophageal reflux, puffy fingers, and fatigue. In addition, patients with other autoimmune disorders may present with symptoms suggestive of SSc. Testing for autoantibodies that are associated with SSc assists diagnosis and can help predict organ involvement and severity of disease.

• #6 Scleroderma: Diagnosis and treatment

  https://www.aad.org/public/diseases/a-z/scleroderma-treatment

  If you have scleroderma, it can take time to get the diagnosis. Scleroderma is rare, and the signs and symptoms are similar to many other diseases. […] Doctors who most commonly diagnose scleroderma are dermatologists and rheumatologists. Dermatologists have expertise in diagnosing diseases that affect the skin, and rheumatologists specialize in diseases that affect the joints, muscles, and bones. […] To diagnose scleroderma, a doctor usually begins by asking you about your symptoms, health, and medical history. The doctor will also examine your skin for signs of hardening and thickening. […] If you have hard, thickened skin, a dermatologist may perform a skin biopsy to help diagnose you. This is a fast-and-easy test that your dermatologist can perform during an office visit. Your dermatologist will remove a bit of affected skin so that it can be examined under a microscope.

• #7 Systemic sclerosis (scleroderma) – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/295

  Systemic sclerosis (scleroderma) is a non-contagious, chronic, multi-system disease. […] Initial symptoms are non-specific and include fatigue, vague musculoskeletal complaints, diffuse swelling of hands, and Raynaud’s phenomenon. […] There are two main subtypes of systemic sclerosis (SSc): limited cutaneous SSc and diffuse cutaneous SSc. […] Clinical course is determined by extent of vascular and fibrosing complications. […] Treatment is targeted on disease processes that are potentially reversible (e.g., active inflammation or vasoconstriction) and aims to minimise functional impairment of the patient. […] Key diagnostic factors include presence of risk factors, Raynaud’s phenomenon, digital pits or ulcers, swelling of the hands and feet, skin thickening, loss of function of hands, sclerodactyly, heartburn, reflux, and dysphagia, bloating, faecal incontinence, arthralgias and myalgias, abnormal nail-fold capillaroscopy, telangiectasia, subcutaneous calcinosis, dyspnoea, dry crackles at lung bases, tendon friction rub, and abrupt onset moderate/marked hypertension. […] 1st investigations to order include serum auto-antibodies, FBC, urea and serum creatinine, ESR, CRP, urine microscopy, complete pulmonary function tests (spirometry, lung volumes, and diffusing capacity measurement), ECG, echocardiogram, high-resolution CT scan of chest, and barium swallow.

• #8 Diagnoses & Tests – National Scleroderma Foundation

  https://scleroderma.org/diagnoses-tests/

  ANA is present in nearly all people who have scleroderma. […] If you test positive for ANA and your doctor suspects you have scleroderma, they will follow up by testing you for other, more specific autoantibodies. […] The autoantibodies in your blood show what subset or type of scleroderma disease you have and your likely prognosis. […] They help your rheumatologist confirm your specific diagnosis and plan your treatment. […] Skin thickening, especially on the skin over your large knuckles, is one of the scleroderma symptoms that doctors look for to help confirm diagnosis. […] Your Modified Rodnan Skin Score is part of a more comprehensive scleroderma test called the Composite Response Index for Systemic Sclerosis (CRISS). […] Skin biopsy is another test to detect fibrosis, although it is not used to diagnose scleroderma.

• #9 Systemic Sclerosis (Scleroderma)

  https://patient.info/doctor/systemic-sclerosis-scleroderma

  Systemic sclerosis diagnosis […] Early diagnosis is vital. Diagnostic criteria have traditionally been proximal scleroderma (proximal to the metacarpophalangeal (MCP) joints, sclerodactyly, digital pitting scars or pulp loss, and bilateral basilar pulmonary fibrosis. […] In 2013, the collaboration of the American College of Rheumatology and the European League Against Rheumatism (ACR/EULAR) proposed a new set of criteria. Further items are given a weighted score. A score of 9 or more is diagnostic of SSc. The traditional 'major’ criterion of skin thickening extending proximal to the MCP joints is given a score of 9 and is therefore sufficient on its own to make a diagnosis. The following features are included in the new system: […] Skin thickening extending proximal to the MCP joints (score 9). […] […] SSc-related autoantibodies (score 3). […] The VEDOSS (Very Early Diagnosis Of Systemic Sclerosis) initiative in Europe identified the following features as being key to diagnosing SSc in the very early stage: […] Antinuclear antibodies. […] […] SSc pattern on nailfold capillaroscopy.

• #10 Scleroderma – Rheumatology Advisor

  https://www.rheumatologyadvisor.com/ddi/scleroderma/

  Because skin involvement makes scleroderma essentially a clinical diagnosis, a thorough and proper physical examination is essential. […] The classification criteria devised by the combined committee of the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR) the 2013 ACR/EULAR criteria and 2016 update provide a critical road map. […] An important element of the physical examination would be to assess the extent, location, and pattern of skin thickening. […] Assessing skin thickening of the fingers is particularly significant. If it involves both hands and extends proximal to the metacarpophalangeal joints, this sign alone is sufficient to diagnose scleroderma. […] Examination of the fingers would include checking for fingertip ulcers or pitting scars and eliciting a history of Raynauds phenomenon.

• #11 Systemic Sclerosis (Scleroderma) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK430875/

  Systemic sclerosis or scleroderma is a rare connective tissue disorder with an unknown and complex pathogenesis. Scleroderma can be divided into 2 primary forms localized scleroderma (including morphea, linear scleroderma, and scleroderma en coup de sabre) and systemic sclerosis. Systemic sclerosis can be further classified as limited systemic sclerosis (formerly known as CREST syndrome, characterized by calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) or diffuse systemic sclerosis based on clinical and serological criteria. […] Effective management of systemic sclerosis requires early diagnosis and ongoing disease progression monitoring. Although a definitive cure does not exist for systemic sclerosis, treatment primarily focuses on managing affected organs and alleviating symptoms to prevent further organ damage in individuals with systemic sclerosis.

• #12 Differential Diagnosis – Scleroderma Education Project

  https://sclerodermainfo.org/faq-clinician/differential-diagnosis/

  As a result, these alternate testing methods are more likely to miss relevant autoantibodies yielding false negative ANA results. […] This can have major impact on scleroderma diagnosis. […] In late 2013, the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR) approved a new set of diagnostic criteria for systemic scleroderma, replacing the older 1980 diagnostic criteria. […] These new standards will improve clinical diagnosis of systemic scleroderma, but it is very important to understand that the reason for developing these new diagnostic standards was to develop a set of criteria that would enable identification of individuals with SSc for inclusion in clinical studies, not for normal diagnosis of patients in a clinical setting. […] Scleroderma diagnosis will remain a clinical challenge in many cases, notwithstanding the new diagnostic criteria.

• #13 Systemic sclerosis

  https://dermnetnz.org/topics/systemic-sclerosis

  The diagnosis of systemic sclerosis is confirmed when key features are present. […] Investigations may include: […] The joint American College of Rheumatology (ACR) and European League against Rheumatism (EULAR) classification criteria (2013) are utilised to diagnose SSc. A score of 9 or more confirms the diagnosis. […] The skin is usually monitored clinically using the modified Rodnan Skin Score (mRSS), which gives an indication of the extent and severity of cutaneous sclerosis, which also reflects the severity and risk of internal organ involvement. […] Monitoring of progress and treatment response is vital in systemic sclerosis.

• #14 Systemic Sclerosis – Musculoskeletal and Connective Tissue Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/systemic-sclerosis

  To help establish the diagnosis, clinicians can also consult the American College of Rheumatology (ACR)/European League Against Rheumatism’s (EULAR) classification criteria for systemic sclerosis. […] ACR/EULAR criteria for systemic sclerosis include the following features: Skin thickening of the fingers of both hands, Fingertip lesions (eg, ulcers, pitting scars), Telangiectasia, Abnormal nail-fold capillaries (eg, ectatic blood vessels, dropout areas) on capillaroscopy examination (eg, seen with an ophthalmoscope or dissecting microscope), Pulmonary arterial hypertension and/or interstitial lung disease, Raynaud phenomenon, Systemic sclerosis-related autoantibodies (anticentromere, anti-Scl-70, anti-RNA polymerase III). […] These criteria are weighted, in some cases according to subcriteria, and added to generate a score. Scores above a certain threshold are classified as definite systemic sclerosis.

• #15 Scleroderma: Diagnosis and treatment

  https://www.aad.org/public/diseases/a-z/scleroderma-treatment

  While a skin biopsy can be helpful, no medical test can tell whether you have scleroderma. Doctors use this test and others to help them find signs that you have scleroderma. Other tests that can help a doctor diagnose scleroderma include blood tests, x-rays, a test to measure how well your lungs are working, and a CAT scan. […] A blood test can tell your doctor whether you have something in your blood called elevated antinuclear antibodies. About 95% of people who have scleroderma have this, but people with other diseases also have this.

• #16 Diagnoses & Tests – National Scleroderma Foundation

  https://scleroderma.org/diagnoses-tests/

  Scleroderma Tests: Diagnosis, Prognosis, Treatment Planning […] If your signs and symptoms suggest that you have scleroderma, youll need to take some tests to confirm your diagnosis and narrow down the exact type of scleroderma you have. […] Tests help you learn your potential disease prognosis, or long-term outlook, and your risk for specific scleroderma complications. […] Youll need other tests at regular clinic visits. […] Test results help track your progress with your current treatment plan, so your rheumatologist can make changes to your therapy if needed. […] Your test schedule is based on your individual clinical needs and disease type. […] No two people living with scleroderma are exactly alike, so you may or may not need all of these tests. […] Antinuclear antibody (ANA) testing is the most important blood test to screen for scleroderma and other connective tissue diseases.

• #17 Systemic Sclerosis (Scleroderma) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK430875/

  Systemic sclerosis is diagnosed through clinical assessment. Early detection of the disease, evaluation of the extent of involvement, and ongoing surveillance for internal organ manifestations are essential for its effective management. […] Autoantibodies are an essential diagnostic tool, offering predictive insights into disease phenotype and prognosis. Antinuclear antibodies, detected through direct immunofluorescence, are positive in over 90% of systemic sclerosis cases. […] Specific autoantibodies, with a positivity rate of 60% to 70%, offer further diagnostic specificity. These antibodies, as mentioned below, which are mutually exclusive, can manifest several months to years before the clinical onset of systemic sclerosis.

• #18 Scleroderma Diagnosis | Scleroderma NewsEnvelope icon

  https://sclerodermanews.com/scleroderma-diagnosis/

  Blood tests are commonly used to diagnose scleroderma, as they can identify the presence of autoantibodies. […] The vast majority of scleroderma patients have detectable blood levels of antinuclear antibodies (ANA; against the cell nucleus). The presence of ANA alone does not confirm a diagnosis of scleroderma, as it can be present in other immune disorders such as lupus. […] The lungs, or the blood vessels of the lungs, are commonly affected in people with systemic scleroderma. […] Systemic scleroderma often affects the heart, either through scarring of the heart tissue itself, or via conditions such as pulmonary arterial hypertension (PAH) putting strain on the heart. […] The digestive system can be affected by systemic scleroderma, which can be detected through an endoscopy.

• #19 Systemic Sclerosis – Scleroderma | Choose the Right Test

  https://arupconsult.com/content/systemic-sclerosis

  Individuals with skin thickening of the fingers that extends proximal to the metacarpophalangeal joints should be tested for SSc. Patients with puffy fingers or sclerodactyly, fingertip ulcers or pitting scars, abnormal nailfold capillaries, and/or signs of Raynaud phenomenon should also be tested, particularly if these signs are accompanied by pulmonary changes, telangiectasia, or arthritis/arthralgia. […] Testing for SSc typically starts with a CBC with platelet count and an automated differential, followed by antinuclear antibody (ANA) immunoglobulin G (IgG) testing by immunofluorescence assay (IFA). ANAs are seen in the majority of patients with SSc (approximately 95%), although a small subset of patients will be negative for ANAs. […] Criteria antibodies for SSc include the following: Anti-Scl-70 (also known as antitopoisomerase 1), ACA, Anti-RNA polymerase III. More than 50% of patients with SSc will have one of these three antibodies, which are generally exclusive of each other. The presence of SSc-specific antibodies may help predict disease phenotype.

• #20 Systemic Sclerosis (Scleroderma) 12 Antibodies Panel 2 | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/94685/systemic-sclerosis-scleroderma-12-antibodies-panel-2?cc=MASTER

  Systemic Sclerosis (Scleroderma) 12 Antibodies Panel 2 – Systemic sclerosis (SSc) is an autoimmune disease characterized by vascular abnormalities, and cutaneous and visceral fibrosis. Some antibodies are considered highly specific for SSc, including Scl-70 (anti-topoisomerase 1) antibody, anti-centromere (CENP) antibodies, and anti-RNA polymerase III antibody and are classification criteria for disease defined by the American College of Rheumatology. […] Autoantibody Testing for Systemic Sclerosis Diagnosis and Determination of Prognosis […] Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis […] Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

• #21 Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis | Clinical Focus | Quest Diagnostics Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis

  https://testdirectory.questdiagnostics.com/test/test-guides/CF-SystemicSclerosis/systemic-sclerosis-laboratory-markers-for-diagnosis-and-prognosis

  This Clinical Focus discusses the role of autoantibody testing in the diagnosis and categorization of SSc, as well as in the assessment of prognosis. […] Early diagnosis of SSc is important to delay, mitigate, or avoid irreversible end-organ damage. The diagnosis is based primarily on the presence of characteristic clinical findings and autoantibodies. […] Autoantibody positivity may be present early in the course of the disease and assist in diagnosis of patients with nonspecific signs and symptoms. Autoantibody patterns can also help distinguish the various types of SSc (ie, lcSSc, dcSSc, sine scleroderma, overlap syndrome) and the organ(s) likely to be involved, which is important for determining prognosis and optimal treatment. […] The presence of RNA polymerase III antibodies is associated with progressive skin thickening, gastric antral vascular ectasia (GAVE), and renal crisis.

• #22 Systemic Sclerosis (Scleroderma) | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20112

  Specific autoantibodies, with a positivity rate of 60% to 70%, offer further diagnostic specificity. […] Anti-centromere antibodies target 4 centromere antigens (CENP -B, -A, -C, D) and are predominantly observed in limited cutaneous systemic sclerosis, although they may occasionally occur in diffuse cutaneous systemic sclerosis. […] The presence of anti-Scl-70 antibodies is linked to an elevated risk of diffuse cutaneous involvement, interstitial lung disease, and cardiac involvement. […] Anti-RNA polymerase III antibodies target the eukaryotic RNA polymerase III. They are particularly associated with diffuse cutaneous systemic sclerosis and are linked to rapidly progressing and aggressive diffuse skin involvement, poor cutaneous outcomes, and scleroderma renal crisis. […] Systemic sclerosis is primarily a clinical diagnosis. However, several other diseases that can mimic systemic sclerosis should be considered when establishing a differential diagnosis. […] Systemic sclerosis is associated with high mortality, having the highest case-specific mortality among all collagen vascular disorders.

• #23 Systemic Sclerosis – Scleroderma | Choose the Right Test

  https://arupconsult.com/content/systemic-sclerosis

  Because SSc is chronic, patients with the disease require annual follow-up, and those with progressive disease may need more frequent follow-up. Some studies associate particular antibodies with clinical manifestations; therefore, detection of particular antibodies early in the disease course may be useful to assess risks for specific clinical manifestations, including organ involvement and cancer.

• #24 Systemic Scleroderma—Definition, Clinical Picture and Laboratory Diagnostics

  https://www.mdpi.com/2077-0383/11/9/2299

  Laboratory tests used for the diagnosis of systemic scleroderma are still of limited relevance at present and are mainly based on the determination of autoantibodies included in the ACR/EULAR 2013 criteria, i.e., anti-centromere antibodies, topoisomerase I antibodies and RNA polymerase III antibodies, which show the highest specificity for SSc. […] The presence of anti-RNA polymerase III (anti-RNAP III) antibodies in the patient’s serum also indicates an increased risk of developing dSSc. […] The presence of anti-centromere antibodies (anti-CENP-B, -A, -C or -D) in the patient’s serum is definitely more beneficial from a clinician’s perspective. […] The most frequently detected antibodies in the diagnosis of systemic sclerosis are presented in Table 3. […] The presence of anti-CENP antibodies has also been shown to correlate negatively with the occurrence of neoplastic lesions in patients with SSc. […] The development of PAH is also more common in patients diagnosed with serum anti-Th/To antibodies.

• #25 Scleroderma: Causes, Symptoms, and Treatment

  https://www.webmd.com/skin-problems-and-treatments/scleroderma

  There are no specific tests for scleroderma. But, your doctor may suspect you have scleroderma after a physical exam and asking about your symptom history. Part of your physical exam may include: […] They might also take a small sample of skin (called a biopsy) for a specialist to look at under a microscope. […] Tests for proteins made by your body called antibodies may also help your doctor diagnose scleroderma and plan your treatment. Some of these antibodies include: […] The presence of other antibodies such as anti-fibrillarin, anti-TH/To, anti-U11/U12 RNP, anti-U1 RNP, anti-PM-Sci, and anti-Ku may indicate that you also have another connective tissue disease that overlaps with scleroderma.

• #26 Differential Diagnosis – Scleroderma Education Project

  https://sclerodermainfo.org/faq-clinician/differential-diagnosis/

  Systemic scleroderma diagnosis is often a challenging and lengthy process. […] It is not uncommon for a person who ultimately is diagnosed with one of the forms of systemic scleroderma to be initially misdiagnosed with many different disorders. […] Part of the reason for this is that some early scleroderma symptoms are non-specific, and unless the physician suspects scleroderma, s/he may not order the appropriate tests to diagnose the condition. […] In almost all cases of systemic scleroderma, the patient will have a positive anti-nuclear antibody (ANA) test result. […] However, even this test can be problematic. […] Recently, many commercial laboratories and some larger hospital laboratories have switched their routine ANA testing to solid phase immunoassays (ELISA or EIA) or a related technique known as a Multiplex platform.

• #27 Scleroderma Workup: Approach Considerations, Laboratory Studies, Autoantibodies

  https://emedicine.medscape.com/article/331864-workup

  The diagnosis of systemic sclerosis is based on the clinical manifestations. Nevertheless, a number of tests and procedures may be used in the initial diagnosis (eg, to exclude alternative diagnoses), the assessment of organ involvement, and monitoring of disease progression. […] Laboratory testing may include the following: Complete blood cell count (CBC), Serum muscle enzyme levels, Erythrocyte sedimentation rate, C-reactive protein, Creatinine, N-terminal pro-brain natriuretic peptide, Autoantibody assays. […] Esophagogastroduodenoscopy with appropriate biopsies, esophageal manometry assessment, and pH monitoring studies should be performed to survey and evaluate the upper gastrointestinal system, including documentation of esophageal dysmotility and an incompetent lower esophageal sphincter.

• #28 Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis | Clinical Focus | Quest Diagnostics Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis Systemic Sclerosis: Laboratory Markers for Diagnosis and Prognosis

  https://testdirectory.questdiagnostics.com/test/test-guides/CF-SystemicSclerosis/systemic-sclerosis-laboratory-markers-for-diagnosis-and-prognosis

  The presence of Scl-70 antibodies is associated with pulmonary and cardiac involvement as well as renal crisis and vascular complications. Therefore, these antibodies indicate a poor prognosis. […] Once a diagnosis of SSc is established, and clinical findings and autoantibody testing have established the type, further laboratory testing is performed to support evaluation of end-organ function and overall health.

• #29 Scleroderma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/scleroderma/diagnosis-treatment/drc-20351957

  Because scleroderma can take so many forms and affect so many different areas of the body, it can be difficult to diagnose. […] After a thorough physical exam, your healthcare professional may suggest blood tests to check for elevated levels of certain antibodies made by the immune system. […] Your healthcare professional also may suggest other blood tests, imaging or organ function tests. These tests may help determine whether your digestive system, heart, lungs or kidneys are affected. […] Your healthcare professional may ask some of the following questions: Do your fingers change colors when you get cold? […] Do you regularly experience heartburn or swallowing problems? […] Have you noticed any skin tightening or skin thickening?

• #30 Systemic Sclerosis/Scleroderma: A Treatable Multisystem Disease | AAFP

  https://www.aafp.org/pubs/afp/issues/2008/1015/p961.html

  The most common subsets are limited cutaneous (approximately 60 percent of patients with systemic sclerosis) and diffuse cutaneous (approximately 35 percent of patients with systemic sclerosis). […] A systemic sclerosis diagnosis is based on clinical findings, which have substantial heterogeneity and varying manifestations. […] The classic clinical presentation is a young or middle-age woman with Raynaud phenomenon and skin changes accompanied by musculoskeletal discomfort and gastrointestinal symptoms. […] Internal organ complications are common in patients with systemic sclerosis but are seldom symptomatic until the late stages of the disease; thus, routine screening for internal organ complications is essential. […] Dyspnea is a late manifestation of systemic sclerosis-related lung disease; however, lung involvement is common and is the leading cause of death in patients with systemic sclerosis.

• #31 Diagnoses & Tests – National Scleroderma Foundation

  https://scleroderma.org/diagnoses-tests/

  Pulmonary function testing (PFT) measures how well your lungs are working as you breathe in and out. […] Pulmonary function testing can help diagnose lung complications like PAH or ILD, even at early and more treatable stages. […] When youre diagnosed with scleroderma, youll have a PFT to measure the baseline of your lung function. […] Scleroderma may cause gastrointestinal (GI) complications like ulcers, infections, acid reflux, heartburn and GERD, constipation, diarrhea, intestinal bleeding, or even growths and blockages. […] Upper endoscopy is a test that can diagnose GI complications of scleroderma early, so you can get treatment. […] Your doctor may prescribe a 24-hour GI test that you do at home on your own. […] If your scleroderma causes GI symptoms like dysphagia (trouble swallowing) or pain, your doctor may suggest other tests to diagnose the cause and prescribe the right treatment. […] Scleroderma-related renal crisis is a rare medical emergency where blood pressure is highly elevated and kidney function declines.

• #32 Scleroderma Workup: Approach Considerations, Laboratory Studies, Autoantibodies

  https://emedicine.medscape.com/article/331864-workup

  High-resolution computerized tomography (HRCT) is highly sensitive for revealing pulmonary involvement. HRCT scanning should be performed every 6 months if active alveolitis or interstitial pulmonary fibrosis is present and every year if these abnormalities are not present. […] Pulmonary function testing is important in all patients with systemic sclerosis, although lung volumes may correlate poorly with the extent of interstitial lung disease. Results of pulmonary function testing are ultimately abnormal in 80% of patients. […] Electrocardiograms (ECGs) should be performed annually to identify arrhythmias and conduction defects. […] Transthoracic echocardiography is a noninvasive study for assessing pulmonary artery pressure. Conduct this test to evaluate the patient’s pulmonary artery pressure at initial evaluation and during serial follow ups and to assess septal fibrosis or pericardial effusions.

• #33 Systemic Sclerosis/Scleroderma: A Treatable Multisystem Disease | AAFP

  https://www.aafp.org/pubs/afp/issues/2008/1015/p961.html

  Systemic sclerosis can affect the lung parenchyma (interstitial lung disease) and the pulmonary blood vessels (pulmonary arterial hypertension). […] Routine screening with pulmonary function tests and Doppler echocardiography in all patients is essential for the early detection of interstitial lung disease and pulmonary arterial hypertension, respectively. […] The initial evaluation of patients with suspected systemic sclerosis includes a complete blood count; a comprehensive chemistry panel; and serologic studies, including antinuclear, anticentromere, and antitopoisomerase antibodies. […] Because of the heterogeneity of systemic sclerosis and potential treatment toxicity, therapy must be individualized to each patient’s clinical presentation and needs. […] No disease-modifying agent has been proven to prevent or reverse fibrosis, although retrospective studies and case series show that d-penicillamine (Cuprimine), mycophenolate mofetil (Cellcept), and cyclophosphamide (Cytoxan) may be effective in some patients. […] There has been significant improvement in treatments for organ-specific complications, especially Raynaud phenomenon, scleroderma renal crisis, and gastrointestinal and pulmonary complications.

• #34 Scleroderma Workup: Approach Considerations, Laboratory Studies, Autoantibodies

  https://emedicine.medscape.com/article/331864-workup

  Right-heart catheterization is the standard criterion and only definitive test for diagnosing pulmonary hypertension. […] Nail-fold capillary microscopy is a non-invasive procedure of substantial value for the assessment of microvascular alterations in systemic sclerosis. […] Skin biopsies and lung biopsies provide conclusive diagnosis of systemic sclerosis, however, these are not routinely used for diagnostic purposes as the diagnosis of systemic sclerosis is based on the clinical manifestations.

• #35 Scleroderma Workup: Approach Considerations, Laboratory Studies, Autoantibodies

  https://emedicine.medscape.com/article/331864-workup

  The diagnosis of systemic sclerosis is based on the clinical manifestations. Nevertheless, a number of tests and procedures may be used in the initial diagnosis (eg, to exclude alternative diagnoses), the assessment of organ involvement, and monitoring of disease progression. […] Laboratory testing may include the following: Complete blood cell count (CBC), Serum muscle enzyme levels, Erythrocyte sedimentation rate, C-reactive protein, Creatinine, N-terminal pro-brain natriuretic peptide, Autoantibody assays. […] Esophagogastroduodenoscopy with appropriate biopsies, esophageal manometry assessment, and pH monitoring studies should be performed to survey and evaluate the upper gastrointestinal system, including documentation of esophageal dysmotility and an incompetent lower esophageal sphincter.

• #36

  https://www.advocatehealth.com/health-services/rheumatology/scleroderma

  Diagnosing scleroderma involves a combination of physical exams, lab tests and imaging tests. Your doctor will review your medical history, discuss your scleroderma symptoms and look for any changes in your skin, such as hard skin and Raynauds syndrome. […] If your rheumatologist suspects scleroderma, they may order blood tests to check for specific antibodies associated with scleroderma. They may also do a skin biopsy where they take a small sample of your skin to look for excess amounts of collagen or tissue damage. […] X-rays, CT scans or MRIs may be used to assess the extent of organ involvement and rule out other conditions.

• #37 Scleroderma and Systemic Sclerosis (SSc): An Overview – HSS.edu

  https://www.hss.edu/conditions_scleroderma-and-systemic-sclerosis-overview.asp

  Scleroderma can be difficult to diagnose, especially early in the course of the disease. […] Systemic sclerosis is diagnosed based on the presence of various symptoms above and physical examination findings. […] The diagnosis can be confirmed by the presence of certain autoantibodies in the blood as well as radiographic studies. […] Once the diagnosis is made, certain studies should be performed to screen for internal organ involvement. […] Individuals with diffuse systemic sclerosis will frequently be instructed to check their blood pressures regularly, and this is done to catch scleroderma kidney disease at its most early stage when treatment is the most effective.

• #38 Scleroderma – getting diagnosed | SRUK

  https://www.sruk.co.uk/scleroderma/scleroderma-getting-diagnosed/

  Your doctor may also suggest breathing tests (pulmonary function tests), a CT scan of your lungs and an echocardiogram of your heart. […] Other tests may be used to help diagnose scleroderma. […] In this test the capillaries at the base of the nail may be examined with an ophthalmoscope, magnifying lens or with a capillary microscope, to look for abnormal patterns. The result is positive if significant damage to the very small blood vessels is observed. […] You then may be given a diagnosis, or even a referral to another specialist in one area as scleroderma can affect different parts of the body.

• #39 TRACC-R Center – Initial Diagnosis

  https://traccrcenter.medicine.umich.edu/scleroderma-toolkit/initial-diagnosis

  Scleroderma, or systemic sclerosis, is a chronic connective tissue disease generally classified as an autoimmune disease. […] The ever-changing nature of symptoms can flare up and calm down. […] Raynaud phenomenon for years, occasionally decades. […] Skin involvement limited to hands, face, feet, and forearms (acral distribution). […] A significant (10 to 15 percent) late incidence of pulmonary hypertension, with or without skin calcification, gastrointestinal disease, telangiectasias (CREST syndrome), or interstitial lung disease. […] Anticentromere antibody (ACA) in 70 to 80 percent. […] Raynaud phenomenon followed, within one year, by puffy or hidebound skin changes. […] Nailfold capillary dilation and capillary drop-out. […] Early and significant incidence of renal, interstitial lung, diffuse gastrointestinal, and myocardial disease.

• #40 The Importance of Early Diagnosis of Systemic Scleroderma

  https://www.jmchemsci.com/article_154867.html

  Systemic scleroderma (SSc) is a progressive and severely debilitating autoimmune disease characterized by inflammation, vasculopathy, and extensive fibrosis. […] Recently, Raynauds phenomenon (RP), puffy fingers turning into sclerodactyly, and antinuclear antibody (ANA) positivity are considered the three red flags for the suspicion of a very early SSc. […] In accordance with clinical guidelines, the ANA identification underlies the SSc laboratory diagnosis, especially at the initial stages of the disease development. […] That is why the early diagnosis of SSc patients is important based on a specific algorithm. […] According to clinical guidelines, every physician, regardless of specialization, should suspect SSc when RP is detected in combination with hand edema. […] Positive ANF, RP, and hand edema are considered „red flags” and are the initial stages of the diagnostic search. […] If even one of these predictors of SSc is found, the diagnosis of the early SSc is made. […] The SSc timely diagnosis by using the methods reflected in the clinical guidelines makes it possible to identify the disease at the initial stages and prevent the complications development.

• #41 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Scleroderma-Diagnosis.aspx

  Scleroderma is a health condition that involves thickening of the skin and may also affect internal organs. This condition can be difficult to diagnose due to the fact that several other health conditions have similar characteristic features; therefore, the differential diagnosis of scleroderma is essential. […] Upon initial presentation, a consultation with the patient is necessary to establish the previous medical history of the patient, indicative symptoms, and family history of the disease or other conditions. […] There is no single test for scleroderma that is able to effectively determine the involvement of the condition. Most patients present with symmetric thickening of the skin, and many are also affected by Raynauds phenomenon. […] A skin biopsy of an affected area can be taken and tested in a laboratory setting for signs of scleroderma. These tests are able to identify anti-topoisomerase antibodies (e.g., anti-scl70) that are associated with the diffuse systemic form of the disease or anti-centromere antibodies, which are associated with the limited systemic form.

• #42 Orphanet: Localized scleroderma

  https://www.orpha.net/en/disease/detail/90289

  A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities. […] Diagnosis is based on clinical presentation. A skin biopsy may help to confirm the diagnosis by revealing abnormal accumulation of collagen, thickening of the vessel walls, and the presence of inflammatory infiltrates in the papillary dermis and around the vessels. Blood tests are usually normal. Some patients may have antinuclear antibodies excluding systemic sclerosis-associated specificities (anti-topoisomerase, anti-centromere or anti-RNA polymerase III antibodies). […] The differential diagnosis includes (but is not limited to): lichen sclerosus, granuloma annulare, erythema chronicum migrans, drug-induced dermatitis, eosinophilic fasciitis or systemic sclerosis, especially in case of generalized/pansclerotic morphea.

• #43 Newly Diagnosed – National Scleroderma Foundation

  https://scleroderma.org/newly-diagnosed/

  In managing SSc, it is important not only to confirm the diagnosis, but also to determine its extent and severity, particularly with regard to the involvement of internal organs. […] Diffuse and limited scleroderma can sometimes be differentiated by the presence of different antibodies called anti-nuclear antibodies (ANA) in the blood.

• #43 Newly Diagnosed – National Scleroderma Foundation

  https://scleroderma.org/newly-diagnosed/

  A new diagnosis of scleroderma doesnt have to be overwhelming, even though the disease is complex. […] Since the symptoms of scleroderma are similar to those of other autoimmune diseases, diagnosis is difficult. There also may be many misdiagnosed or undiagnosed cases. […] Diagnosis of systemic sclerosis (SSc) may be very difficult, particularly in its early stages. Many of its symptoms are common to, and may overlap with, those of other diseases, especially other autoimmune connective tissue diseases such as rheumatoid arthritis and lupus. […] While SSc can often be suspected from its more visible symptoms, no single test can prove its presence. […] The American College of Rheumatology along with its European counterpart (European League of Associations for Rheumatology, EULAR) recently revised the classification criteria for SSc to help doctors make more accurate and early diagnosis.

• #44 Systemic Sclerosis (Scleroderma) | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20112

  The manifestations of scleroderma may overlap extensively with those of other rheumatological or immunological diseases. The severity of the presentation may also vary depending on the timing of the systemic sclerosis diagnosis. […] Systemic sclerosis is diagnosed through clinical assessment. Early detection of the disease, evaluation of the extent of involvement, and ongoing surveillance for internal organ manifestations are essential for its effective management. […] Assessment of skin thickness is performed using the modified Rodnan skin score, which assigns scores ranging from 0 to 3, with 0 indicating uninvolved areas and 3 indicating severe skin thickening. Monitoring changes in the score over time is important as it holds prognostic significance. […] Autoantibodies are an essential diagnostic tool, offering predictive insights into disease phenotype and prognosis. Antinuclear antibodies, detected through direct immunofluorescence, are positive in over 90% of systemic sclerosis cases.

• #45 Diagnoses & Tests – National Scleroderma Foundation

  https://scleroderma.org/diagnoses-tests/

  ANA is present in nearly all people who have scleroderma. […] If you test positive for ANA and your doctor suspects you have scleroderma, they will follow up by testing you for other, more specific autoantibodies. […] The autoantibodies in your blood show what subset or type of scleroderma disease you have and your likely prognosis. […] They help your rheumatologist confirm your specific diagnosis and plan your treatment. […] Skin thickening, especially on the skin over your large knuckles, is one of the scleroderma symptoms that doctors look for to help confirm diagnosis. […] Your Modified Rodnan Skin Score is part of a more comprehensive scleroderma test called the Composite Response Index for Systemic Sclerosis (CRISS). […] Skin biopsy is another test to detect fibrosis, although it is not used to diagnose scleroderma.

• #46 Systemic Sclerosis – Musculoskeletal and Connective Tissue Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/systemic-sclerosis

  As part of baseline evaluation, pulmonary function testing, high-resolution chest CT (with supine and prone position to ensure that early changes are not due to atelectasis), and echocardiography are used to document cardiopulmonary involvement (interstitial lung disease and/or pulmonary hypertension) and severity of disease. The initial evaluation is indicated even in patients who do not report dyspnea, cough, or exercise intolerance. Echocardiography and pulmonary function testing should be done every 1 to 2 years thereafter.

• #47 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Scleroderma-Diagnosis.aspx

  The diagnosis of scleroderma can sometimes be confused with several other health conditions, including: Eosinophilia, Eosinophilia-myalgia syndrome, Eosinophilic fasciitis, Graft-versus-host disease, Mycosis fungoides, Nephrogenic systemic fibrosis, Primary biliary cirrhosis, Primary pulmonary hypertension, Complex regional pain syndrome.

• #48 Scleroderma Differential Diagnoses

  https://emedicine.medscape.com/article/331864-differential

  The following disorders may present clinical similarities with systemic sclerosis (scleroderma mimics) and need to be included in the differential diagnosis: […] Gadolinium-based contrast agents, bleomycin, pentazocine, and several other drugs and chemicals have been shown to cause disorders resembling systemic sclerosis. These must be considered in the differential diagnosis.

• #49 Differential Diagnosis – Scleroderma Education Project

  https://sclerodermainfo.org/faq/differential-diagnosis/

  In late 2013, the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR) approved a new set of diagnostic criteria for systemic scleroderma, replacing the older 1980 diagnostic criteria. These new standards will improve clinical diagnosis of systemic scleroderma, but it is very important to understand that the reason for developing these new diagnostic standards was to develop a set of criteria that would enable identification of individuals with SSc for inclusion in clinical studies, not for normal diagnosis of patients in a clinical setting. […] Scleroderma diagnosis will remain a clinical challenge in many cases, notwithstanding the new diagnostic criteria. […] From a diagnostic standpoint, having a cluster of symptoms that can be associated with systemic scleroderma but without visible skin changes can be a major problem. […] This makes diagnosis very challenging, and, unfortunately, especially in cases with no visible skin involvement, getting a proper diagnosis can sometimes take literally years and be very frustrating for the patient (as well as their physicians).

• #50 Systemic Sclerosis – Musculoskeletal and Connective Tissue Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/systemic-sclerosis

  Diagnosis is clinical, but laboratory tests support the diagnosis and aid in prognostication. […] Systemic sclerosis should be considered in patients with Raynaud syndrome, typical musculoskeletal or skin manifestations, or unexplained dysphagia, malabsorption, pulmonary fibrosis, pulmonary hypertension, or cardiomyopathies. Diagnosis of systemic sclerosis sine scleroderma should be considered in patients who have unexplained visceral findings (eg, pulmonary hypertension). Diagnosis of systemic sclerosis can be obvious in patients with a combination of classic manifestations, such as Raynaud syndrome (with abnormal nail-fold capillary findings), dysphagia, and thickened skin. However, in some patients, the diagnosis cannot be made clinically; confirmatory laboratory tests can increase the probability of disease, but the absence of some laboratory and physical findings does not exclude it.

• #51 Differential Diagnosis – Scleroderma Education Project

  https://sclerodermainfo.org/faq/differential-diagnosis/

• #52 Diagnosis – Scleroderma Association of Saskatchewan

  https://sclerodermasaskatchewan.ca/diagnosis/

  Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening. […] A scleroderma diagnosis is based largely on a thorough evaluation of your medical history, symptoms and findings from the physical exam. […] Lab tests commonly confirm the presence of specific antibodies in scleroderma patients. […] Some patients present with some, but not all, of the symptoms related to scleroderma. Diagnostic tests are useful in confirming or ruling out a scleroderma diagnosis. […] UCTD is a term for patients who have some signs and symptoms of various related diseases, but not enough symptoms of any one particular disease to make a definitive diagnosis. […] Over time, UCTD typically follows three distinct paths: spontaneous improvement, continued undifferentiated symptoms, or progression into a systemic disease such as systemic sclerosis, systemic lupus erythematosus, or rheumatoid arthritis. […] Overlap syndrome: a disease combination in which patients have symptoms and lab findings characteristic of two or more conditions.

• #53 Systemic Sclerosis (Scleroderma)

  https://patient.info/doctor/systemic-sclerosis-scleroderma

  Systemic sclerosis diagnosis […] Early diagnosis is vital. Diagnostic criteria have traditionally been proximal scleroderma (proximal to the metacarpophalangeal (MCP) joints, sclerodactyly, digital pitting scars or pulp loss, and bilateral basilar pulmonary fibrosis. […] In 2013, the collaboration of the American College of Rheumatology and the European League Against Rheumatism (ACR/EULAR) proposed a new set of criteria. Further items are given a weighted score. A score of 9 or more is diagnostic of SSc. The traditional 'major’ criterion of skin thickening extending proximal to the MCP joints is given a score of 9 and is therefore sufficient on its own to make a diagnosis. The following features are included in the new system: […] Skin thickening extending proximal to the MCP joints (score 9). […] […] SSc-related autoantibodies (score 3). […] The VEDOSS (Very Early Diagnosis Of Systemic Sclerosis) initiative in Europe identified the following features as being key to diagnosing SSc in the very early stage: […] Antinuclear antibodies. […] […] SSc pattern on nailfold capillaroscopy.

• #54 Scleroderma: Diagnosis, Treatment, and Steps to Take

  https://www.niams.nih.gov/health-topics/scleroderma/diagnosis-treatment-and-steps-to-take

  It is important that you and your doctor work together to monitor your blood pressure, including: […] Most people will see a rheumatologist for scleroderma treatment. A rheumatologist is a doctor who specializes in rheumatic diseases such as arthritis and other inflammatory or autoimmune disorders. […] Because scleroderma can affect many different organs and organ systems, you may have several different doctors providing your care.

• #55 Scleroderma | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/scleroderma-systemic-sclerosis/

  The Rheumatology Program at UT Southwestern Medical Center is one of the nations leading clinical and research centers for rheumatic diseases, including scleroderma (also called systemic sclerosis). […] Our experts combine compassionate care with the latest medical resources for accurate diagnostic services and effective treatments that make a difference in patients lives. […] At UT Southwestern, patients with symptoms of systemic sclerosis see our rheumatologists (specialists in autoimmune diseases and diseases that affect joints, bones, and muscles) and dermatologists. Our doctors conduct a thorough evaluation, which includes a: […] Because systemic sclerosis can affect several areas, our doctors might recommend one or more tests to confirm a diagnosis. Possible tests include: […] Blood tests to check levels of certain antibodies produced by the immune system […] Biopsy (small sample) of skin from an affected area to analyze under a microscope for abnormalities […] Imaging, such as an X-ray or computed tomography (CT) scan, to examine the lungs for damage.

• #56 Scleroderma Diagnosis. What Do I Do? | Patient Resources – Scleroderma Research Foundation

  https://srfcure.org/living-with-scleroderma/resources/ive-been-diagnosed-what-do-i-do-now/

  Your primary care doctor can review your symptoms and do initial testing. Once a scleroderma diagnosis is made, you may be referred to see a rheumatologist. […] Patients who are diagnosed with scleroderma are encouraged to receive care at a specialized Treatment Center.

• #57 Scleroderma Antibodies: What They Mean for Diagnosis, More

  https://www.healthline.com/health/scleroderma-antibodies

  An ANA test is used to help diagnose many autoimmune diseases. If a doctor suspects that you have scleroderma, that can test for scleroderma-specific antibodies to help make the diagnosis. […] The types of scleroderma antibodies that you have can be associated with the disease you experience. Because some types of scleroderma can lead to serious organ damage, its important to contact a doctor if you notice signs of scleroderma.

• #58 Scleroderma | Royal Brompton & Harefield hospitals

  https://www.rbht.nhs.uk/our-services/scleroderma

  Tests are needed to accurately assess the presence and extent of lung disease, including lung function (breathing) tests and a CT scan of the chest. […] Lung function testing, repeated every six to twelve months, is the most useful test for measuring lung fibrosis and for detecting any worsening of the condition. […] A persistent worsening of lung function tests usually means that the fibrosis is progressing and is an indicator to your doctor that additional treatment may be required.

Zobacz więcej