Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false‐positive serological test for syphilis
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Abstract Elliptocytosis, multiple lipomatosis, and biological false‐positive serological test for syphilis (BFPSTS) were found in a single individual. One hundred eighty relatives were tested for the three diseases: 74 were typed for seven blood group antigens, and 58 were typed for four electrophoretic enzyme markers. Likelihood analysis of the pedigree data confirmed independent dominant inheritance for elliptocytosis and lipomatosis. BFPSTS appears dominant, but the analysis was inconclusive. No linkages were found between any disease gene and any marker gene. Two female pedigree members with BFPSTS developed systemic lupus erythematosus, a finding in agreement with the previously described association. The analysis did not lead to any conclusions about the causal relationship between the two traits.Keywords:
Syphilis Serodiagnosis
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Treponema pallidum subsp. pallidum is a fastidious spirochete and the etiologic agent of syphilis, a sexually transmitted infection (STI). Syphilis diagnoses and disease staging are based on clinical findings and serologic testing. Moreover, according to most international guidelines, PCR analysis of swab samples from genital ulcers is included in the screening algorithm where possible. It has been suggested that PCR might be omitted from the screening algorithm due to low added value. As an alternative to PCR, IgM serology might be used. In this study, we wanted to establish the added value of PCR and IgM serology for diagnosing primary syphilis. Added value was defined as finding more cases of syphilis, preventing overtreatment, or limiting the extent of partner notification to more recent partners. We found that both PCR and IgM immunoblotting could aid the timely diagnosis of early syphilis in ~24% to 27% of patients. PCR has the greatest sensitivity and can be applied to cases with an ulcer with suspected reinfection or primary infection. In the absence of lesions, the IgM immunoblot could be used. However, the IgM immunoblot has better performance in cases with suspected primary infection than in reinfections. The target population, testing algorithm, time pressures, and costs should determine whether either test provides sufficient value to be implemented in clinical practice.
Fastidious organism
Syphilis Serodiagnosis
Neurosyphilis
Treponematosis
Early syphilis
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Numerous serological tests for syphilis have been devised; there is, however, little information available indicating which test or combination of tests gives the most reliable results in routine serological work.The present paper attempts to answer this question.Five modern serological tests, differing from each other as widely as possible, were applied to a series of 470 serums from syphilitic persons and 989 serums from non-syphilitic persons.Attention has been paid not only to the sensitivity and specificity of the results of the individual tests but also to the ease with which the tests could be performed.Finally a procedure has been evolved whereby all syphilitic serums can be identified and at the same time the occurrence of non-specific results almost entirely eliminated.
Syphilis Serodiagnosis
Cardiolipins
Treponematosis
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Screening for syphilis with treponemal chemiluminescence immunoassays (CIA) identifies patients with discordant serology who are not identified with traditional screening methods (eg, CIA-positive, rapid plasma regain (RPR)-negative). We sought to describe the clinical characteristics and management of patients with discordant syphilis serology.From August 2007-October 2007, patients with CIA-positive, RPR-negative serology were tested with the Treponema pallidum particle agglutination assay (TP-PA) at Kaiser Permanente Northern California. Clinical and demographic characteristics, prior syphilis history and CIA index values were compared for CIA-positive, RPR-negative patients according to TP-PA status.Of 21,623 assays, 439 (2%) were CIA-positive and 255/439 (58%) were RPR-negative; subsequently, 184 (72%) were TP-PA-positive and 71 (28%) were TP-PA--negative. TP-PA--positive patients were more likely to be male, HIV-positive, homosexual, previously treated for syphilis (57% versus 9%), with higher median CIA index values (9.8 versus 1.6) (all P < .0001). After repeat testing, 7/31 (23%) CIA-positive, RPR-negative, TP-PA--negative patients seroreverted to CIA-negative.TP-PA results in conjunction with clinical/behavioral assessment helped guide the management of patients with CIA-positive, RPR-negative serology. TP-PA-positive patients were both highly likely to have prior syphilis and major epidemiologic risk factors for syphilis. CIA-positive, RPR-negative, TP-PA-negative serology may represent a false-positive CIA in low-prevalence populations.
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Treponematosis
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In Ottawa, Canada, we initiated protocols to include non-serologic syphilis testing, as direct fluorescence antibody (DFA) for patients with syphilis symptoms. The purpose was to assess the ability of DFA to detect syphilis during acute infection and to determine if non-serologic testing could yield an increased number of syphilis diagnoses. We reviewed charts of patients of our local sexual health clinic for whom syphilis was suspected. A total of 69 clinical encounters were recorded for 67 unique patients, most of whom were male. The most common symptom was a painless genital lesion. Of the 67 patients, 29 were found to have a new syphilis diagnosis, among whom, 52% had positive syphilis serology and positive DFA, 34% had a positive syphilis serology and negative DFA, and 14% had negative syphilis serology and positive DFA. While DFA testing did not yield an abundance of new cases, it was useful to support findings from syphilis serology or confirm diagnosis where serology was negative. Where available, alternate non-serologic tests, such as nucleic acid amplification tests, should be considered above DFA due to its higher sensitivity for detecting syphilis in primary lesions; however, in clinical situations, when new syphilis infection is suspected, empiric treatment should not be delayed.
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Treponematosis
Latent Syphilis
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The Boeck-Bruusgaard series of cases of untreated syphilis consists of approximately 2,000 patients with primary and/or secondary syphilis, hospitalized in the Dermatological Department, University Hospital, Oslo, in the 20 years between 1891 and 1910.Prof. Caesar Boeck, who was head of the Dermatological Department in those years, had very little belief in the effect upon early syphilis of the various anti- syphilitic drugs which were then available; conse- quently drugs were very rarely given to patients with early syphilis in his department and this policy was continued until Salvarsan was introduced in 1910.Mercury was administered only in exceptional cases, and potassium iodide to some patients whose clinical course was presumed to indicate its use, but in general, the patients with early syphilis were left
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Recent developments in syphilis serology are set down. The new specific tests for treponema pallidum are described. Reactivity in different stages of the disease including congenital and neurosyphilis is discussed. An outline is given of the possibilities of the IgM-FTA-ABS and 19 S IgM-FTA-ABS tests. Syphilis serology today requires only 3 tests: a screening procedure, where the specific AMHA-TP is the method of choice, FTA-ABS test should be used for confirmation, and the quantitative VDRL in order to follow up the effectiveness of treatment.
Neurosyphilis
Syphilis Serodiagnosis
Congenital syphilis
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Syphilis Serodiagnosis
Early syphilis
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The enzyme-linked immunosorbent assay (ELISA) technique, using an ultrasonicate of Treponema pallidum as antigen, has been evaluated as a serological test for syphilis. It is concluded that the test is simple, reliable, and relatively quick and that its sensitivity in all stages of syphilis is equal to the FTAABS test. Because its specificity is probably also high, ELISA might be used in future as a first-line screening test for the serodiagnosis of syphilis.
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The fluorescent treponemal antibody absorption (FTA-ABS) test is as specific as, and much more sensitive than, theTreponema pallidumimmobilization test. The FTA-ABS test may detect syphilis earlier than the venereal disease research laboratories test for syphilis (VDRL), and it will rule out biologic false reactors with a high degree of accuracy. The FTA-ABS test likewise will permit the diagnosis of syphilis in many instances of late symptomatic syphilis which are nonreactive with routine reagin tests. Tests employing protein derived from the Reiter treponeme as antigen cause confusion because of lower sensitivity. The Kolmer test with Reiter protein (KRP) Reiter protein complement fixation test (RPCF) should be considered obsolete with the present availability of the FTA-ABS test.
Rapid plasma reagin
Complement fixation test
Syphilis Serodiagnosis
Congenital syphilis
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