Neonatal Familial Evans Syndrome Associated with Joint Hypermobility and Mitral Valve Regurgitation in Three Siblings in a Saudi Arab Family

Ahmed, Fathelrahman; AlBakrah, Mohameed S.

doi:10.5144/0256-4947.51784

Cited by 6 publications

(7 citation statements)

References 19 publications

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“…3,21,22 Due to the large size of this study and the systematic collection of family data, we are now able to refute this point. A genetic predisposition to AIHA, of autosomal recessive or dominant transmission, can be suspected for a small subgroup of patients, since consanguinity (8%) was observed in specific ethnic groups and a history of immunological diseases in first-degree relatives (14%) in all ethnic groups.…”

Section: Genetic Predisposition To Childhood Autoimmune Hemolytic Anemiamentioning

confidence: 83%

“…In AIHA/ES, a family history of immunological diseases was observed in 22% of cases, with five cases of ES in first-or second-degree relatives. 21,22 However, incomplete concordance in monozygotic twins highlights the importance of multigenic systems and/or environmental factors. The slightly high 9% rate of prematurity draws attention to potential antenatal events.…”

Section: Genetic Predisposition To Childhood Autoimmune Hemolytic Anemiamentioning

confidence: 99%

See 1 more Smart Citation

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

Aladjidi¹,

Leverger²,

Leblanc³

et al. 2011

Haematologica

187

180

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Since 2004, a national observational study has been aiming to thoroughly describe cases and identify prognostic factors. Patients from all French hematologic pediatric units have been included if they had a hemoglobin concentration less than 11 g/dL, a positive direct antiglobulin test and hemolysis. Evans' syndrome was defined by the association of autoimmune hemolytic anemia and immunological thrombocytopenic purpura. Data from patients' medical records were registered from birth to last follow-up. Autoimmune hemolytic anemia was classified as primary or secondary. Remission criteria, qualifying the status of anemia at last follow-up, were used with the aim of identifying a subgroup with a favorable prognosis in continuous complete remission. ResultsThe first 265 patients had a median age of 3.8 years at diagnosis. In 74% of cases the direct antiglobulin test was IgG/IgG+C3d. Consanguinity was reported in 8% of cases and first degree familial immunological diseases in 15% of cases. Evans' syndrome was diagnosed in 37% of cases. Autoimmune hemolytic anemia was post-infectious in 10%, immunological in 53% and primary in 37% of cases. After a median follow-up of 3 years, 4% of children had died, 28% were still treatment-dependent and 39% were in continuous complete remission. In multivariate analysis, IgG and IgG+C3d direct antiglobulin tests were associated with a lower rate of survival with continuous complete remission (adjusted hazard ratio, 0.43; 95% confidence interval, 0.21-0.86). ConclusionsThis nationwide French cohort is the largest reported study of childhood autoimmune hemolytic anemia. The rarity of this condition is confirmed. Subgroups with genetic predisposition and underlying immune disorders were identified.Key words: autoimmune hemolytic anemia, children, prognostic factors, Evans' syndrome, rare diseases. Citation: Aladjidi N, Leverger G, Leblanc T, Picat MQ, Michel G, Bertrand Y, Bader-Meunier

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Section: Genetic Predisposition To Childhood Autoimmune Hemolytic Anemiamentioning

confidence: 83%

Section: Genetic Predisposition To Childhood Autoimmune Hemolytic Anemiamentioning

confidence: 99%

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

Aladjidi¹,

Leverger²,

Leblanc³

et al. 2011

Haematologica

187

180

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“…In recent years, research on the role of tripeptidyl peptidase deficit, which is revealed in patients with ES, and susceptibility to viral infections have been performed 7 . There is evidence of the immune ITP and AHA development in children after vaccination 8 , suggesting a possible role of immunization in initiating the disease mechanisms in people with genetic predisposition 9,10 .…”

Section: Discussionmentioning

confidence: 99%

Evans’ syndrome in an old patient: case presentation

Dvoretsky¹,

Карнаушкина²,

Vakolyuk³

et al. 2019

Arch Balk Med Union

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Syndrome d'Evans chez un patient âgé: rapport de cas Introduction. Le syndrome d'Evans (anémie hémolytique auto-immune associée à une thrombopénie) est un syndrome hématologique rare chez les personnes âgées. Rapport du cas. Un patient de 94 ans a été diagnostiqué avec le syndrome d'Evans avec la sécrétion de la protéine monoclonale. La maladie s'est accompagnée d'une diminution périodique des valeurs d'hémoglobine et de plaquettes, accompagnée d'une détérioration de l'état clinique, du développement d'un syndrome hémorragique. Un traitement prolongé aux glucocorticoïdes a conduit au développement de l'ostéoporose, compliquée par une fracture par compression de la vertèbre lombaire. Les principales manifestations cliniques de la maladie (syndrome douloureux, mobilité limitée) ont été associées au développement de cette complication. Conclusions. Le diagnostic du syndrome d'Evans chez les patients âgés nécessite l'exclusion d'autres maladies s'apparentant au syndrome. Un traitement prolongé aux glucocorticoïdes peut entraîner des

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“…We found 60 cases of familial ITP in 20 families, reported in 20 articles [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25] Five families had several affected members with different kinship degrees and 2 families had both parents and children affected. Most patients were Caucasian but also Black 13, Chinese 22 , and Arabic 18,23 . Moreover, the 2 families reported by Ahmed et al 18,23 had some consanguineous marriages.…”

Section: Literature Review On Familial Itpmentioning

confidence: 99%

Familial Immune Thrombocytopenia. Report of 16 Cases and Literature Review

Pujol-Moix¹

2018

J Rare Dis Res Treat

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Immune thrombocytopenia (ITP) is an acquired disorder that generally occurs in sporadic individuals, but a few patients are grouped in families. The aims of the present study were: 1) to perform a retrospective descriptive study of a series of patients with familial ITP, and 2) to perform a literature review on familial ITP.We studied 16 ITP patients, from 8 families, selected by using the general established exclusion criteria as well as at least one of the following additional positive criteria: the finding of autoantibodies on the platelet surface, a short platelet survival in the kinetic study, or a clear therapeutic response to immunosupressors or splenectomy. Moreover, we studied 60 patients with familial ITP previously reported in the literature, selected by using the same diagnostic criteria as for our patients. The patient's characteristics of familial ITP were not substantially different from those of sporadic ITP patients. The small number of patients reported in the literature suggests that, familial ITP has been underdiagnosed. We recommend considering the possible diagnosis of familial ITP when a familial thrombocytopenia has no demonstrable genetic cause, especially if there are other autoimmune disorders in the family. Moreover, to obtain a true diagnosis in these families we recommend applying the additional positive criteria mentioned above besides the exclusion diagnostic criteria.

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Neonatal Familial Evans Syndrome Associated with Joint Hypermobility and Mitral Valve Regurgitation in Three Siblings in a Saudi Arab Family

Cited by 6 publications

References 19 publications

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

Evans’ syndrome in an old patient: case presentation

Familial Immune Thrombocytopenia. Report of 16 Cases and Literature Review

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