Diagnostic Criteria for Marfan Syndrome (MFS)

Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ systems.

Diagnostic Criteria for Marfan Syndrome (MFS)


The Ghent criteria consist of major and minor criteria. The major criteria are features or symptoms that are common in people with Marfan syndrome and rare in people who do not have the syndrome.

Minor criteria are features or symptoms that are present in people with Marfan syndrome, but are also present in people who do not have it.

To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different criteria as described below.

If you have a family history of Marfan syndrome, you will need to have one of the major criteria and one of the minor criteria that affect different systems in your body, such as your skeleton and your blood vessels.
If you do not have a family history of Marfan syndrome, you will need to have two major criteria and one of the minor criteria that affect different systems in your body.

ILAR Classification Criteria for Juvenile Idiopathic Arthritis (JIA)

Juvenile idiopathic arthritis is a heterogeneous group of diseases characterised by arthritis of unknown origin with onset before age of 16 years.

International League of Associations for Rheumatology (ILAR) classification of juvenile idiopathic arthritis (JIA)

JIA can be diagnosed if age at onset is under 16 years, disease duration is 6 weeks or greater, and other known conditions are excluded.

• Systemic-onset JIA: Systemic arthritis is diagnosed if there is arthritis in 1 or more joints with, or preceded by, fever of at least 2 weeks' duration. Signs or symptoms must have been documented daily for at least 3 days and accompanied by 1 or more of the following: evanescent rash, generalised lymphadenopathy, hepato/splenomegaly, serositis. (Exclusions are A, B, C, and D from the exclusion list below.)
• Persistent or extended oligoarthritis: Oligoarthritis is diagnosed if there is arthritis affecting 1 to 4 joints during the first 6 months. Persistent oligoarthritis affects up to 4 joints throughout the course of the disease, and extended oligoarthritis affects more than 4 joints after the first 6 months of disease. (Exclusions are A, B, C, D, and E from the exclusion list below.)
• RF-negative polyarthritis: Polyarthritis (RF-negative) is diagnosed if there is rheumatoid factor (RF)-negative arthritis affecting 5 or more joints during the first 6 months of disease. (Exclusions are A, B, C, D, and E from the exclusion list below.)
• RF–positive polyarthritis: Polyarthritis (RF-positive) is diagnosed if there is RF-positive arthritis affecting 5 or more joints during the first 6 months of disease. Two or more RF tests (taken at least 3 months apart) are positive during the first 6 months of disease. (Exclusions are A, B, C, and E from the exclusion list below.)
• Psoriatic JIA: Psoriatic arthritis is diagnosed if there is arthritis and psoriasis, or arthritis and at least 2 of the following: dactylitis, nail pitting, onycholysis, and/or family history of psoriasis (in a first-degree relative). (Exclusions are B, C, D, and E from the exclusion list below.)
• Enthesitis-related arthritis: Enthesitis-related arthritis is diagnosed if there is arthritis and/or enthesitis with at least 2 of the following: presence or history of sacroiliac joint tenderness with or without inflammatory lumbosacral pain; presence of HLA B27 antigen; onset of arthritis in a male over 6 years of age; acute (symptomatic) anterior uveitis; history of ankylosing spondylitis, enthesitis-related arthritis, sacroiliitis with inflammatory bowel disease, Reiter's syndrome, or acute anterior uveitis in a first-degree relative. (Exclusions are A, D, and E from the exclusion list below.)
• Undifferentiated: Undifferentiated arthritis is diagnosed if there is arthritis that does not fulfil criteria in any of the above categories or that fulfils criteria for 2 or more of the above categories.

Screening for breast cancer

Recommendations

Major Recommendations

Note from the National Guideline Clearinghouse (NGC) and the U.S. Preventive Services Task Force (USPSTF): On December 4, 2009, the USPSTF unanimously voted to update the language of their recommendation regarding women under 50 years of age to clarify their original and continued intent. The following recommendations reflect that change.
The U.S. Preventive Services Task Force (USPSTF) grades its recommendations (A, B, C, D, or I) and identifies the Levels of Certainty regarding Net Benefit (High, Moderate, and Low). The definitions of these grades can be found at the end of the "Major Recommendations" field.
Summary of Recommendations and Evidence

• The USPSTF recommends biennial screening mammography for women aged 50 to 74 years. This is a B recommendation.
• The decision to start regular, biennial screening mammography before the age of 50 years should be an individual one and take patient context into account, including the patient’s values regarding specific benefits and harms. This is a C recommendation.
• The USPSTF concludes that the current evidence is insufficient to assess the additional benefits and harms of screening mammography in women 75 years or older. This is an I statement.
• The USPSTF recommends against teaching breast self-examination (BSE). This is a D recommendation.
• The USPSTF concludes that the current evidence is insufficient to assess the additional benefits and harms of clinical breast examination (CBE) beyond screening mammography in women 40 years or older. This is an I statement.
• The USPSTF concludes that the current evidence is insufficient to assess the additional benefits and harms of either digital mammography or magnetic resonance imaging (MRI) instead of film mammography as screening modalities for breast cancer. This is an I statement.

Management of women with cervical intraepithelial neoplasia or adenocarcinoma in situ

Recommendations

Major Recommendations

The ratings of the strength of recommendation (A-E), the quality of the evidence (I-III), and terminology used by the consensus conference (recommended, preferred, acceptable, unacceptable) are defined at the end of the Major Recommendations.
Note from the American Society for Colposcopy and Cervical Pathology (ASCCP): The management of low-grade cervical intraepithelial neoplasia (CIN) grade 1 has been modified significantly since 2001. Previously, management depended on whether colposcopy was satisfactory and treatment using ablative or excisional was acceptable for all women with CIN 1. In the new guidelines, cytological follow-up is the only recommended management option for women with CIN 1 who have low-grade referral cervical cytology, regardless of whether the colposcopic examination is satisfactory. Treatment is particularly discouraged in adolescents. The basic management of women in the general population with CIN 2,3 underwent only minor modifications, but options for the conservative management of adolescents with CIN 2,3 have been expanded. Moreover, management recommendations for women with biopsy-confirmed adenocarcinoma in situ are now included.

The management of erectile dysfunction

Recommendations

Major Recommendations

Definitions of the strength of the recommendations (standard, recommendation, option) are defined at the end of the "Major Recommendations" field.
Initial Management and Discussion of Treatment Options with Patients
Recommended Therapies and Patient Information
Standard: The management of erectile dysfunction begins with the identification of organic comorbidities and psychosexual dysfunctions; both should be appropriately treated or their care triaged. The currently available therapies that should be considered for the treatment of erectile dysfunction include the following: oral phosphodiesterase type 5 (PDE5) inhibitors, intra-urethral alprostadil, intracavernous vasoactive drug injection, vacuum constriction devices, and penile prosthesis implantation. These appropriate treatment options should be applied in a stepwise fashion with increasing invasiveness and risk balanced against the likelihood of efficacy (based on review of data and Panel consensus).
Standard: The patient and, when possible, his partner should be informed of the relevant treatment options and their associated risks and benefits. The choice of treatment should be made jointly by the physician, patient, and partner, when possible, taking into consideration patient preferences and expectations and the experience and judgment of the physician (based on Panel consensus).

Incontinence in women

Major Recommendations

Note from the European Association of Urology (EAU) and the National Guideline Clearinghouse (NGC): The following recommendations were current as of the publication date. However, because EAU updates their guidelines frequently, users may wish to consult the EAU Web site for the most current version available.
Note from the National Guideline Clearinghouse (NGC) and the European Association of Urology (EAU): Following the complete updating for print in 2009 of the EAU Guidelines on Urinary Incontinence, the Incontinence Guidelines Writing Panel considered it helpful to provide an addendum to the Guidelines on the role of weight loss in urinary incontinence. Recent high-quality scientific publications underpin the statements made here. The new recommendation is labeled 2010 Addendum.
Levels of evidence (1a-4) and the grades of recommendations (A-C) are provided at the end of the "Major Recommendations" field.

Management of acute coronary syndromes

Recommendations

Major Recommendations

Notes from the National Guideline Clearinghouse (NGC)

• In March 2008, the National Heart Foundation of Australia/Cardiac Society of Australia and New Zealand released an addendum to their 2006 guidelines for the management of acute coronary syndrome, highlighting evidence "that strengthens the recommendations in the guidelines or provides alternatives to current recommended practice that should be considered based on the circumstances of the individual patient and setting." This new information is presented under the heading "2008 Addendum: Implications of the Findings."
• The National Heart Foundation of Australia/Cardiac Society of Australia and New Zealand released an additional addendum in August 2011. This addendum "summarises clinical trial evidence published since 2007 that is relevant to the recommendations contained in the Heart Foundation's Guidelines for the management of acute coronary syndromes 2006 and 2007 addendum to the National Heart Foundation of Australia/Cardiac Society of Australia and New Zealand Guidelines for the management of acute coronary syndromes 2006. These recommendations are directed at the management of patients with spontaneous acute coronary syndromes, rather than those occurring as a result of other conditions (e.g., anaemia or thyrotoxicosis) where management may be directed at the underlying cause. This new information is presented under the heading "2011 Addendum."
• Definitions for the strength of recommendations and levels of evidence for the 2011 addendum are provided at the end of the "Major Recommendations" field.