Preliminary Diagnostic Criteria Research Articles

The Japanese version of the 2010 American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia and the Fibromyalgia Symptom Scale: reliability and validity

The aim of this study was to investigate the reliability and the validity of the Japanese version of the 2010 American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia (ACR 2010-J), and its quantification scale, the Fibromyalgia Symptom Scale (FS-J). In this study, we divided patients with chronic pain without psychiatric disorders other than depression into two groups according to the 1990 ACR Diagnostic Criteria for Fibromyalgia, a fibromyalgia group and a non-fibromyalgia group (rheumatoid arthritis, osteoarthritis, and gout). Patients in both groups were assessed using the ACR 2010-J and FS-J. Seventy-seven of 94 (82%) patients in the fibromyalgia group met the ACR 2010-J, whereas 9% (4/43) of the non-fibromyalgia group did so, with a sensitivity of 82%, specificity of 91%, positive predictive value of 95%, negative predictive value of 70%, and positive likelihood ratio of 8.8. Mean total scores on the FS-J significantly differentiated the fibromyalgia from the non-fibromyalgia group. The scale had high inter-rater reliability and high internal consistency. With a cutoff score of 10, the positive likelihood ratio was 10.1. Our findings indicate that the ACR 2010-J and FS-J have high reliability and validity, and are useful for assessing fibromyalgia in Japanese populations with chronic pain. As regards the positive likelihood ratio, that of the FS-J might be suitable as a positive test.

PCDH19 defects in girls with infantile myoclonic epilepsy with and without autism

Epilepsy and mental retardation limited to females (EFMR, OMIM 300088) was reported in an extended family in 1971. The mode of inheritance is unique and not completely understood. Recently, defects in the protocadherin 19 gene, PCDH19, were identified in EFMR. This gene is located on the X chromosome and codes for an intercellular adhesion molecule. Subsequently, it became clear that many affected girls suffer from what had been diagnosed a Dravet's Syndrome, without an SCN1A defect. It was shown that PCDH 19 defects are the second leading cause of Dravet's Syndrome in girls. About 20% of SCN1A negative girls are affected. Preliminary diagnostic criteria are:

Fibromyalgia Criteria and Severity Scales for Clinical and Epidemiological Studies: A Modification of the ACR Preliminary Diagnostic Criteria for Fibromyalgia

To develop a fibromyalgia (FM) survey questionnaire for epidemiologic and clinical studies using a modification of the 2010 American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia (ACR 2010). We also created a new FM symptom scale to further characterize FM severity. The ACR 2010 consists of 2 scales, the Widespread Pain Index (WPI) and the Symptom Severity (SS) scale. We modified these ACR 2010 criteria by eliminating the physician's estimate of the extent of somatic symptoms and substituting the sum of 3 specific self-reported symptoms. We also created a 0-31 FM Symptom scale (FS) by adding the WPI to the modified SS scale. We administered the questionnaire to 729 patients previously diagnosed with FM, 845 with osteoarthritis (OA) or with other noninflammatory rheumatic conditions, 439 with systemic lupus erythematosus (SLE), and 5210 with rheumatoid arthritis (RA). The modified ACR 2010 criteria were satisfied by 60% with a prior diagnosis of FM, 21.1% with RA, 16.8% with OA, and 36.7% with SLE. The criteria properly identified diagnostic groups based on FM severity variables. An FS score ≥ 13 best separated criteria+ and criteria- patients, classifying 93.0% correctly, with a sensitivity of 96.6% and a specificity of 91.8% in the study population. A modification to the ACR 2010 criteria will allow their use in epidemiologic and clinical studies without the requirement for an examiner. The criteria are simple to use and administer, but they are not to be used for self-diagnosis. The FS may have wide utility beyond the bounds of FM, including substitution for widespread pain in epidemiological studies.

Preliminary diagnostic criteria for fibromyalgia should be partially revised: Comment on the article by Wolfe et al

Preliminary diagnostic criteria for fibromyalgia should be partially revised: Comment on the article by Wolfe et al

The American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia and Measurement of Symptom Severity

To develop simple, practical criteria for clinical diagnosis of fibromyalgia that are suitable for use in primary and specialty care and that do not require a tender point examination, and to provide a severity scale for characteristic fibromyalgia symptoms. We performed a multicenter study of 829 previously diagnosed fibromyalgia patients and controls using physician physical and interview examinations, including a widespread pain index (WPI), a measure of the number of painful body regions. Random forest and recursive partitioning analyses were used to guide the development of a case definition of fibromyalgia, to develop criteria, and to construct a symptom severity (SS) scale. Approximately 25% of fibromyalgia patients did not satisfy the American College of Rheumatology (ACR) 1990 classification criteria at the time of the study. The most important diagnostic variables were WPI and categorical scales for cognitive symptoms, unrefreshed sleep, fatigue, and number of somatic symptoms. The categorical scales were summed to create an SS scale. We combined the SS scale and the WPI to recommend a new case definition of fibromyalgia: (WPI > or =7 AND SS > or =5) OR (WPI 3-6 AND SS > or =9). This simple clinical case definition of fibromyalgia correctly classifies 88.1% of cases classified by the ACR classification criteria, and does not require a physical or tender point examination. The SS scale enables assessment of fibromyalgia symptom severity in persons with current or previous fibromyalgia, and in those to whom the criteria have not been applied. It will be especially useful in the longitudinal evaluation of patients with marked symptom variability.

New American College of Rheumatology Criteria for Fibromyalgia: A Twenty‐Year Journey

Twenty years have passed since the publication of the American College of Rheumatology (ACR) 1990 criteria for the classification of fibromyalgia (1). In this issue of Arthritis Care & Research, new ACR preliminary diagnostic criteria for fibromyalgia are presented (2). The new criteria accomplish the following: remove tender points from the criteria and as the central element in the fibromyalgia definition; change the case definition of fibromyalgia; recognize the importance of a quantitative measure of widespread pain, the widespread pain index (WPI); incorporate key fibromyalgia symptoms into the criteria; provide severity scales to measure the extent of widespread pain and symptom severity; and make available an alternate conceptualization of fibromyalgia for those who do not think fibromyalgia is a valid diagnostic entity. The new criteria bring together the seemingly conflicting concept of a “disorder” that has strict criteria with the alternative approach of a continuum of symptoms without any clear dividing point. But the sense of continuum can be seen in Figures 1 and 3 in the ACR criteria article (2), and in the dependence of the criteria diagnosis of fibromyalgia on the interaction of varying levels of the WPI and the symptom severity (SS) scale. Pain extent (WPI) and symptom scale variables may seem to represent two dimensions, but factor analysis demonstrates only one factor. Pain extent and SS scale are correlated at 0.733 and they are part of the same process. In fact, it is possible to sum the WPI and SS scale into a single index that represents the essential content of fibromyalgia (3). The ACR diagnostic criteria should not be seen as an endorsement of the legitimacy and existence of fibromyalgia—the criteria are neutral on that point. Existence and legitimacy are concepts that have existential, philosophic, and social components, and are not resolved with the publication of these criteria. The issues that are worrisome about fibromyalgia remain (4). At a practical level, the new criteria abandon the tender point examination, an examination that was difficult for some examiners, and believed to be more honored in the breach than the observance in primary care. Tender points distracted from the important purpose of understanding the patient’s problems. The new ACR criteria replace the 11 tender-point dichotomy as well as the widespread pain dichotomy with the continuous WPI scale that provides much more information about pain threshold and pain extent. For those who feel the research need for a widespread pain indicator, it can easily be derived from the WPI variables. None of this is to suggest that physical examination is not required. In fact, physical examination is strongly recommended as part of the routine examination; however, it is no longer a part of the diagnostic criteria. Elimination of the tender point examination may seem to lighten the physician’s role, but such is not the case. The new criteria require that the examiner fully understand the patient’s problems. You cannot guess at the extent of fatigue, unrefreshed sleep, cognitive problems, multiplicity of symptoms, and extent of pain without a detailed interview. The new criteria obligate you to pay careful attention to the patient if you want to diagnose fibromyalgia. The ACR criteria introduced the SS scale, which is a summary score from scales measuring the extent of fatigue, unrefreshed sleep, cognitive problems, and multiplicity of symptoms. The SS score correlates with the WPI at 0.733 and the tender point count at 0.680, and is used as part of fibromyalgia criteria. The scale captures well the essential content of fibromyalgia or what we have called “fibromyalgianess” (5). The scale can capture differences in severity in patients diagnosed with fibromyalgia, but also in all patients, including those without fibromyalgia, because the scale content is part of the human condition in the presence of physical illness and mental stress. If we conceive of fibromyalgia as the end of a continuum, then this measure of fibromyalgianess is a good tool to assess the continuum. The SS scale has another role in the context of fibromyalgia diagnosis. The ACR criteria article noted that 25% of patients who carried the diagnosis of fibromyalgia did not Frederick Wolfe, MD: University of Kansas School of Medicine and National Data Bank for Rheumatic Diseases, Wichita, Kansas. Address correspondence to Frederick Wolfe, MD, National Data Bank for Rheumatic Diseases, 1035 North Emporia, Suite 288, Wichita, KS 67214. E-mail: fwolfe@ arthritis-research.org. Submitted for publication February 9, 2010; accepted February 10, 2010. Arthritis Care & Research Vol. 62, No. 5, May 2010, pp 583–584 DOI 10.1002/acr.20156 © 2010, American College of Rheumatology

Development and Validation of Novel Diagnostic Criteria for Intestinal Behçet's Disease in Korean Patients With Ileocolonic Ulcers

It is difficult to diagnose intestinal Behçet's disease (BD) due to various extraintestinal manifestations emerging at different time points in the disease course and a lack of reliable diagnostic criteria. We conducted this study to develop and validate novel diagnostic criteria for intestinal BD. Experts from three universities generated the preliminary diagnostic criteria for intestinal BD, and a consensus was reached using a modified Delphi method with 13 gastroenterologists participating. To validate the criteria, we recruited 12,850 consecutive patients who underwent colonoscopic examinations between January 2000 and December 2006 at Severance Hospital, Yonsei University, Seoul, Korea. The novel diagnostic criteria were developed on the basis of two aspects: colonoscopic findings and extraintestinal manifestations. Of the 12,850 patients, 280 with ileocolonic ulcers were enrolled for validation. At the time of initial colonoscopic examinations, patients were categorized for BD status into 4 groups: definite (84 patients), probable (67), suspected (15), and nondiagnostic (114). At the end of the follow-up period (mean, 50.9+/-25.7 months), intestinal BD was confirmed in 145 patients (51.8%)-84 (100%) from the definite group, 49 (73.1%) from the probable group, 10 (66.7%) from the suspected group, and 2 (1.8%) from the nondiagnostic group. The overall sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the diagnosis probability of these criteria were 98.6, 83.0, 86.1, 98.2, and 91.1%, respectively. These newly proposed, simple criteria might be useful in diagnosing intestinal BD, especially in patients with ileocolonic ulcers who do not fully satisfy the diagnostic criteria of systemic BD.

Painless jaundice with serial multi-organ dysfunction

In April, 2008, a 68-year-old man presented to us with pruritus and painless jaundice. 2 years earlier, he had developed aortic stenosis and undergone replacement of a bicuspid aortic valve and his dilated ascending aorta. Preoperative assessment showed extensive mediastinal and hilar lymphadenopathy. A lymph node obtained at the time of his surgery showed follicular hyperplasia. Pathology of the aorta was recorded as chronic sclerosing aortitis. 1 year later, he developed nodular, painless swellings in both submandibular regions. A diagnosis of sialadenitis was made. The submandibular gland swelling waxed and waned but remained largely asymptomatic. When he presented to us, total bilirubin was 88·92 μmol/L (normal 1·35 g/L, infi ltration of >50% IgG4+ plasma cells into tissue, and fi brosis or sclerosis has been proposed as preliminary diagnostic criteria. However, the precise pathophysiology of this disease remains unclear. IgG4 may be a counter-regulatory mechanism to an elusive primary infl ammatory process. IgG4-related systemic disease is a potential cause of multiorgan system dysfunction and a mimicker of malignancy. The disease is responsive to immunosuppressive therapy, and should therefore be borne in mind when a suspected carcinoma remains elusive to detection.

Factor analysis of traditional Chinese medicine syndromes in 815 patients with unstable angina

To explore the laws of traditional Chinese medicine (TCM) syndromes in unstable angina, and to establish the preliminary diagnostic criteria for TCM syndromes. Multi-center prospective research on TCM syndromes in 815 cases of unstable angina was done with the nonlinear dimension reduction by factor analysis. There were five extracted factors in factor analysis: F1, F2, F3, F4 and F5. F1 was yin deficiency of heart and kidney, F2 was deficiency of both heart and spleen, F3 was intermingled phlegm and blood stasis, F4 was qi deficiency and blood stasis, and F5 was yang deficiency and coagulated cold. Qi deficiency and blood stasis (F4) syndrome accounted for the maximum proportion. The diagnostic criteria for TCM syndromes were preliminarily and respectively established. Qi deficiency and blood stasis is the key factor of pathogenesis. The factor analysis can help us classify traditional Chinese medicine syndromes and establish the preliminary diagnostic criteria.

Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders

Background:Mikulicz’s disease (MD) has been considered as one manifestation of Sjögren’s syndrome (SS). Recently, it has also been considered as an IgG4-related disorder.Objective:To determine the differences between IgG4-related disorders including...

Preliminary laboratory based diagnostic criteria for immune thrombocytopenic purpura: evaluation by multi-center prospective study.

We proposed diagnostic criteria for immune thrombocytopenic purpura (ITP) by modifying the existing guidelines for diagnosis of ITP and by incorporating laboratory tests found useful for predicting its diagnosis, for example erythrocyte count, leukocyte count, anti-GPIIb/IIIa antibody-producing B cells, platelet-associated anti-GPIIb/IIIa antibodies, percentage of reticulated platelets, and plasma thrombopoietin. To validate our criteria, we conducted a multi-center prospective study involving 112 patients with thrombocytopenia and a morphologically normal peripheral blood film at the first visit. Each patient underwent a physical examination, routine laboratory tests, and specialized tests for the anti-GPIIb/IIIa antibody response and platelet turnover. Ninety-one patients (81%) satisfied the proposed criteria at first visit. Clinical diagnosis was made by skilled hematologists > 6 months after the first visit; ITP was diagnosed in 88 patients and non-ITP disorders in 24. The proposed criteria had 98% sensitivity, 79% specificity, a 95% positive predictive value, and a 90% negative predictive value. A relatively low specificity appears to be attributed to a few patients who had both ITP and aplastic anemia or myelodysplastic syndrome. Our preliminary diagnostic criteria based on ITP-associated laboratory findings were useful for the differential diagnosis of ITP, but additional evaluations and modifications will be necessary to develop criteria that can be used routinely.

Understanding predisposition to schizophrenia: toward intervention and prevention.

Early intervention to prevent schizophrenia is one of the most important goals of schizophrenia research. However, the field is not yet ready to initiate trials to prevent prodromal or psychotic symptoms in people who are at risk for developing the disorder. In this paper, we consider some of the major obstacles that must be studied before prevention strategies become feasible. One of the most important hurdles is the identification of a syndrome or set of traits that reflects a predisposition to schizophrenia and that might provide potential targets for intervention. In a recent reformulation of Paul Meehl's concept of schizotaxia, we integrate research findings obtained over the last 4 decades to propose a syndrome with meaningful clinical manifestations. We review the conceptualization of this syndrome and consider its multidimensional clinical expression. We then describe preliminary research diagnostic criteria for use in adult, nonpsychotic, first-degree relatives of patients diagnosed with schizophrenia, based on negative symptoms and neuropsychological deficits. We follow this with evidence supporting the validity of the proposed syndrome, which mainly includes social dysfunction and response to a low dosage of one of the newer antipsychotic medications. Continued progress toward the eventual initiation of prevention strategies for schizophrenia will include sustained efforts to validate the traits reflecting a predisposition to develop the disorder (for example, schizotaxia), follow-up studies to confirm initial findings, and the identification of potentially useful preventive interventions.

Cryoglobulinemia in primary Sjögren's syndrome: Prevalence and clinical characteristics in a series of 115 patients

Objectives: To determine the prevalence and nature of cryoglobulins in a large series of patients with primary Sjögren's syndrome (SS) and identify the clinical and immunologic features related to their presence. Methods: In a cross-sectional study, we investigated 115 consecutive patients(107 women and eight men) with primary SS. All patients fulfilled four or more of the preliminary diagnostic criteria for SS proposed by the European Community Study Group in 1993. Serum cryoglobulinemia was measured in all patients. Serum samples were obtained at 37°C, and cryoglobulinemia was estimated by centrifugation after incubation at 4°C for 7 days. The type of cryoglobulinemia was identified by agarose gel electrophoresis and immunofixation. Results: Cryoglobulins were detected in the sera of 18 (16%) of our patients with primary SS; most were IgMκ monoclonal/IgG polyclonal. When compared with patients without cryoglobulins, those with cryoglobulins presented a higher prevalence of leukocytoclastic cutaneous vasculitis (56% v 8%, P < .001), hypocomplementemia (75% v 2%; P < 0.001) and antibodies to hepatitis C virus (HCV) (47% v 8%, P < .001). Liver involvement (clinical signs, biochemical features, or ultrasound/histological data of liver disease) was present in all patients (100%) with cryoglobulins and HCV infection but in only 11% of patients with cryoglobulins without HCV infection ( P < .001). Conclusions: Leukocytoclastic cutaneous vasculitis, hypocomplementemia,and HCV infection are associated with the presence of cryoglobulins in the sera of patients with primary SS. Testing for HCV infection is recommended for patients with SS and cryoglobulinemia because of its high prevalence and its strong association with liver disease.

Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders.

We investigated the validity and reliability of diagnoses made by eight neuropathologists who used the preliminary NINDS neuropathologic diagnostic criteria for progressive supranuclear palsy (PSP) and related disorders. The specific disorders were typical, atypical, and combined PSP, postencephalitic parkinsonism, corticobasal ganglionic degeneration, and Pick's disease. These disorders were chosen because of the difficulties in their neuropathologic differentiation. We assessed validity by measuring sensitivity and positive predictive value. Reliability was evaluated by measuring pairwise and group agreement. From a total of 62 histologic cases, each neuropathologist independently classified 16 to 19 cases for the pairwise analysis and 5 to 6 cases for the group analysis. The neuropathologists were unaware of the study design, unfamiliar with the assigned cases, and initially had no clinical information about the cases. Our results showed that with routine sampling and staining methods, neuropathologic examination alone was not fully adequate for differentiating the disorders. The main difficulties were discriminating the subtypes of PSP and separating postencephalitic parkinsonism from PSP. Corticobasal ganglionic degeneration and Pick's disease were less difficult to distinguish from PSP. The addition of minimal clinical information contributed to the accuracy of the diagnosis. On the basis of results obtained, we propose clinicopathologic diagnostic criteria to improve on the NINDS criteria.

Clinical and research implications of the diagnosis of dysphoric or mixed mania or hypomania.

The authors reviewed available evidence regarding the status of dysphoric or mixed mania as a distinct clinical state and formulated operational criteria for its diagnosis. Studies of dysphoric mania or hypomania in patients with bipolar disorder were analyzed with regard to clinical characteristics, prevalence, demographic features, course of illness, outcome, family history, associated conditions, biological tests, and response to biological treatment. Although some studies suggest that dysphoric and nondysphoric mania are similar conditions, others suggest that, compared with nondysphoric mania, dysphoric mania may be more severe; more likely to occur in women; more likely to be associated with suicidality, a younger age at onset, a longer duration of illness, higher rates of personal and familial depression, concomitant alcohol or sedative-hypnotic abuse, neuropsychiatric abnormalities, and poorer outcome; more frequently associated with cortisol nonsuppression; and less likely to respond adequately to lithium but perhaps more likely to respond to ECT or anticonvulsants. Substantial evidence suggests that dysphoric mania may be a distinct affective state. Contrary evidence, however, suggests that dysphoric mania may be a form of typical mania, a stage-related or severe form of mania, or a transitional state between mania and depression. Because the evidence may be inconsistent because of varying definitions of dysphoric mania among studies, the authors propose preliminary operational diagnostic criteria for the future study of dysphoric mania.

Persistent psychophysiologic insomnia: preliminary Research Diagnostic Criteria and EEG sleep data.

Some patients with persistent psychophysiologic insomnia have a history of generalized anxiety, minor depression, or drug misuse. Their sleep resembles sleep of patients with generalized anxiety (except for night 2 improvement in the insomniacs' sleep continuity) but differs from sleep of patients with major depression.

Erythema multiforme: a critical review of characteristics, diagnostic criteria, and causes.

Erythema multiforme (EM), in its modern definition, is an acute, self-limited syndrome with distinctive skin lesions with or without mucosal lesions. Use of the terminology "EM minor" and "EM major" is a reasonable approach to separating the classical mild cutaneous syndrome, as described by Hebra (EM minor), from the usually more severe syndrome, with marked mucosal damage, as described by Stevens and Johnson (EM major). Until objective markers for EM are available, we propose preliminary diagnostic criteria for EM, based primarily on clinical features. Although hundreds of factors have been reported to cause EM, only a limited number are reasonably well documented as possible precipitating agents. Recurrent herpes simplex is an important etiologic factor in EM minor, while mycoplasmal infections and drugs may be associated with EM major. Progress in the understanding of EM will require careful attention to definition and diagnostic criteria and identification of distinct clinical and etiologic subsets within the spectrum of EM.