Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome

Ammouri, W.; Cuisset, Laurence; Rouaghe, S.; Rolland, M. O.; Delpech, Marc; Grateau, Gilles; Ravet, N.

doi:10.1093/rheumatology/kem200

Cited by 121 publications

(92 citation statements)

References 16 publications

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“…Currently, mevalonic acid excretion is often collected during febrile episodes (Ammouri et al 2007). It is assumed that the excretion of mevalonic acid is elevated during febrile MKD episodes.…”

Section: Discussionmentioning

confidence: 99%

“…As clinical criteria are lacking, the diagnosis can only be confirmed by demonstration of decreased enzyme activity or by identification of two known pathogenic MVK mutations (Ammouri et al 2007). However, although urinary mevalonic acid excretion is often used in the diagnostic evaluation of suspected MKD patients, the diagnostic value of this urinary analysis has not been investigated yet and remains unclear.…”

Section: Introductionmentioning

confidence: 99%

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Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

et al. 2015

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Objective: In patients suffering from mevalonate kinase deficiency (MKD), the reduced enzyme activity leads to an accumulation of mevalonic acid which is excreted in the urine. This study aims to evaluate the diagnostic value of urinary mevalonic acid measurement in patients with a clinical suspicion of mevalonate kinase deficiency.Methods: In this single-center, retrospective analysis, all patients in whom both measurement of mevalonic acid and genetic testing had been performed in the preceding 17 years have been included. The presence of two pathogenic MVK mutations or demonstration of decreased enzyme activity was considered to be the gold standard for the diagnosis of MKD.Results: Sixty-one patients were included in this study. Thirteen of them harbored two MVK mutations; twelve of them showed elevated levels of mevalonic acid. Forty-eight patients did not harbor any MVK mutations, yet five of them excreted increased amounts of mevalonic acid. This corresponds to a sensitivity of 92%, a specificity of 90%, a positive predictive value of 71%, and a negative predictive value of 98%. The positive likelihood ratio is 10 and the negative likelihood ratio is 0.09.Conclusion: MKD seems very unlikely in patients with a normal mevalonic acid excretion, but it cannot be excluded completely. Further, a positive urinary mevalonic acid excretion still requires MVK analysis to confirm the diagnosis of MKD. Therefore, detection of urinary mevalonic acid should not be mandatory before genetic testing. However, as long as genetic testing is not widely available and affordable, measurement of urinary mevalonic acid is a fair way to select patients for MVK gene analysis or enzyme assay.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

et al. 2015

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“…94 High levels of immunoglobulin D (IgD) 31 are characteristic of HIDS, but are apparently not associated with the severity of pathophysiology of the condition. 95 In MKD, febrile attacks occur more frequently in the first year of life, lasting 3 to 7 days and recurring every 4 to 6 weeks. 8 However, the time elapsed between episodes can vary from patient to patient and even in a single individual.…”

Section: Mevalonate Kinase Deficiency (Mkd) or Hyper-igd And Periodicmentioning

confidence: 99%

“…90,104 Nonetheless, IgD levels may be within normal limits in some HIDS patients, especially children under the age of 3. 8,95 Furthermore, the finding of high IgD levels is not specific for HIDS, as it occurs in other inflammatory diseases, such as FMF and TRAPS. 95 In these conditions, however, IgD levels never exceed 100 U/mL, unlike in HIDS.…”

Section: Mevalonate Kinase Deficiency (Mkd) or Hyper-igd And Periodicmentioning

confidence: 99%

“…8,95 Furthermore, the finding of high IgD levels is not specific for HIDS, as it occurs in other inflammatory diseases, such as FMF and TRAPS. 95 In these conditions, however, IgD levels never exceed 100 U/mL, unlike in HIDS. 6,95 The utility of high IgD levels in the diagnosis of MKD was established in a study of 50 patients with the MKD phenotype.…”

Section: Mevalonate Kinase Deficiency (Mkd) or Hyper-igd And Periodicmentioning

confidence: 99%

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Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

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Objective: To describe the most prevalent pediatric hereditary autoinflammatory syndromes.Sources: A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. Summary of the findings:The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome) Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Conclusions:Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.

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A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

Gattorno¹,

Sormani²,

D’Osualdo³

et al. 2008

Arthritis & Rheumatism

169

104

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Objective. To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes.Methods. A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic score was formulated based on univariate and multivariate analyses in genetically positive and negative patients (training set). The diagnostic score was validated in an independent set of 77 patients (validation set).Results. Young age at onset (odds ratio [OR] 0.94, P ‫؍‬ 0.003), positive family history of periodic fever (OR 4.1, P ‫؍‬ 0.039), thoracic pain (OR 4.6, P ‫؍‬ 0.05), abdominal pain (OR 33.1, P < 0.001), diarrhea (OR 3.3, P ‫؍‬ 0.028), and oral aphthosis (OR 0.2, P ‫؍‬ 0.007) were found to be independently correlated with a positive genetic test result. These variables were combined in a linear score whose ability to predict a positive result on genetic testing was validated in an independent data set. In this latter set, the diagnostic score revealed high sensitivity (82%) and specificity (72%) for discriminating patients who were genetically positive from those who were negative. In patients with a high probability of having a positive result on genetic testing, a regression tree analysis provided the most reasonable order in which the genes should be screened.Conclusion. The proposed approach in patients with periodic fever will increase the probability of obtaining positive results on genetic testing, with good specificity and sensitivity. Our results further help to optimize the molecular analysis by suggesting the order in which the genes should be screened.

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Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome

Abstract: The clinical relevance of the IgD measurement for the diagnosis of MKD in our population appears as poor, as reflected by likelihood ratios which are both close to 1.

Cited by 121 publications

References 16 publications

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

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