Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia

Guison, Jérôme; Blaison, G.; Stoica, Oana; Hurstel, Remy; Favier, Maryline; Favier, Rémi

doi:10.4084/mjhid.2017.038

Cited by 6 publications

(3 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Multiple families with hereditary thrombocytopenia have been identified to have mutations within this same region of the 5′UTR. 7 - 18 Also, DNA sequence analysis of the APC gene demonstrated a variant of undetermined significance, which was a heterozygous sequence change located in the exon 16, c.4918 C>T.…”

Section: Resultsmentioning

confidence: 99%

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome

Kewan

Noss

Godley

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

View full text Add to dashboard Cite

Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. We recommend a monthly complete blood count and clinical visits every 3 months at a minimum.

show abstract

Section: Resultsmentioning

confidence: 99%

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome

Kewan

Noss

Godley

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

View full text Add to dashboard Cite

show abstract

“…In addition to c. 473A > G, 11 other single nucleotide mutations within the 5 UTR mutation of ANKRD26 were confirmed to be pathogenic, they are c. Table 2). There was only one Noris et al, 2011;Pippucci et al, 2011;Perez Botero et al, 2015 c.-118 C > A 3(8) Noris et al, 2011Noris et al, , 2013Boutroux et al, 2015 C > G 1(1) Diep et al, 2019 C > T 7(25) Noris et al, 2011Noris et al, , 2013Pippucci et al, 2011;Marquez et al, 2014;Ouchi-Uchiyama et al, 2015;Diep et al, 2019 c. c.-125 T > G 3(5) Noris et al, 2011;Pippucci et al, 2011;Marconi et al, 2017 c.-126 T > C 1(7) Najm et al, 2013;Ventz et al, 2013 T > G 3(6) Noris et al, 2011Noris et al, , 2013 c.-127 A > G 3(13) Noris et al, 2011Noris et al, , 2013 A > T 8(30) Noris et al, 2011Noris et al, , 2013Pippucci et al, 2011;Boutroux et al, 2015;Vincenot et al, 2016 A > C 1(6) Guison et al, 2017 Del AT 1(6) Noris et al, 2013;Bluteau et al, 2014 c.-128 G > A 16(69) Noris et al, 2011Noris et al, , 2013Pippucci et al, 2011;Ferrari et al, 2016Ferrari et al, , 2017Zaninetti et al, 2017 G > C 2(4) Noris et al, 2013;…”

Section: Discussionmentioning

confidence: 99%

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

et al. 2020

View full text Add to dashboard Cite

Thrombocytopenia 2 (THC2) is one of the most prevalent forms of inherited thrombocytopenia. It is caused by a heterogeneous group of ANKRD26 gene mutation and shows a heterogeneous clinical and laboratory characteristics. We present a big Chinese family with 10 THC2 patients carrying c.-128G > T heterozygous substitution in the 5-untranslated region of the ANKRD26 gene. Although the platelets are fewer than 50 × 10 9 /L in 8 THC2 family members, only the proband and her son show a higher WHO bleeding score. The proband and her son are also beta-thalassemia carriers with heterozygous c.52A > T mutation of HBB, which might not be associated with the increased bleeding tendency since 3 other family members with low bleeding tendency also carried both ANKRD26 c.-128G > T and HBB c.52A > T mutations. However, the proband and her son also show hypofibrinogenaemia, which is likely the cause of their more severe clinical manifestation. HID1 c.442G > T mutation was detected not only in these two hypofibrinogenaemia family members but also in the other 8 family members with normal blood fibrinogen levels. Our study suggests that the co-occurrence of other inherited genetic conditions associated with blood coagulation might contribute to the heterogeneity of clinical and laboratory characteristics in THC2 patients. Considering the hematologic and myeloid malignancy predisposition of THC2 patients and a large population of immune thrombocytopenia in China, we urge more attention to be paid to the diagnosis of THC2 patients to avoid misdiagnosis and mistreatment.

show abstract

“…12 Quelques rapports de cas uniques indiquent que même en cas de thrombopénie marquée ou de déficit fonctionnel majeur, la survenue d'une thrombose est possible, plutôt alors dans le territoire veineux. 13,14 TRAITEMENT ANTITHROMBOTIQUE : RÈGLES DE BASE POUR UN RAISONNEMENT STRUCTURÉ L'évaluation de la balance risque-bénéfice d'un traitement antithrombotique chez les patients avec une diathèse hémorragipare constitutionnelle repose sur quelques considérations générales et règles de base. En tout premier lieu, le phénotype clinique hémorragique personnel (et familial) doit être attentivement (ré)évalué, au sein de la structure spécialisée dont ils relèvent.…”

Section: Thrombopénies Et Thrombopathies Constitutionnellesunclassified

Traitements antithrombotiques et anomalies constitutionnelles hémorragipares de l’hémostase

Casini¹,

Fontana²,

LeCompte³

2018

Revue Médicale Suisse

View full text Add to dashboard Cite

Antithrombotic treatments and inherited bleeding disordersInherited disorders of haemostasis predisposing to bleeding (platelet defects; deficiencies in von Willebrand and clotting factors) do not fully protect against the occurrence of thrombotic events. For patients affected with such disorders, antithrombotic treatments, which carry an additional haemorrhagic risk, are very challenging. There are no evidence-based recommendations, but only expert consensus at best. In this narrative review, we describe the epidemiology of the thrombotic risk in such a setting, and propose some basic rules for a structured reasoning and examples of the guidance on the utilization of antithrombotic drugs. Antithrombotic therapy for such patients, who are managed by specialized teams on a life-long basis, is performed case-by-case, and should involve all caregivers including GPs in a concerted manner.

show abstract

Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia

Cited by 6 publications

References 18 publications

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

Traitements antithrombotiques et anomalies constitutionnelles hémorragipares de l’hémostase

Contact Info

Product

Resources

About