Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome

Lefrère, Bertrand; Stépanian, Alain; Itzhar‐Baikian, Nathalie; Charles, Perrine; Hadj-Ali, Arezki; Joly, Bérangère S.; Alhenc‐Gelas, Martine; Drouet, Ludovic; Veyradier, Agnès; Siguret, Virginie

doi:10.1684/abc.2018.1324

Cited by 4 publications

(4 citation statements)

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“…94 Rivaroxaban (factor Xa inhibitor) has been successfully used as an alternative prophylaxis in PMM2-CDG patients. 95 Of note, fluctuations of coagulation abnormalities have been noted with age, 96 and with during fever, probably due to thermolability of PMM2. 31,97 Other hematological abnormalities like thrombocytopenia and neutropenia have rarely been reported.…”

Section: Hematological Involvementmentioning

confidence: 97%

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan

Péanne

Jaeken

et al. 2019

J of Inher Metab Disea

101

126

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Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.

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Section: Hematological Involvementmentioning

confidence: 97%

“…There is one report of inefficient low molecular weight heparin treatment (LMWH) in congenital antithrombin deficiency . Rivaroxaban (factor Xa inhibitor) has been successfully used as an alternative prophylaxis in PMM2‐CDG patients …”

Section: Systems Summaries and Statementsmentioning

confidence: 99%

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan

Péanne

Jaeken

et al. 2019

J of Inher Metab Disea

101

126

View full text Add to dashboard Cite

show abstract

“…36 Factor Xa inhibitors are a reasonable alternative to heparin, as rivaroxaban has been used successfully to treat thrombosis in a CDG patient. 37 Vitamin K antagonists (i.e., warfarin) have been used for secondary prophylaxis of venous thrombosis. 36 Fresh frozen plasma (FFP) has been used, as in other disorders with bleeding diatheses, to prevent bleeding episodes in CDG.…”

Section: Hematologic Involvementmentioning

confidence: 99%

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Verheijen

Tahata

Kozicz

et al. 2020

Genetics in Medicine

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Congenital disorders of glycosylation (CDG) are a group of clinically and genetically heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG types are ultrarare disorders. CDG types affecting N-glycosylation are the most common type of CDG with emerging therapeutic possibilities. This review is an update on the available therapies for disorders affecting the N-linked glycosylation pathway. In the first part of the review, we highlight the clinical presentation, general principles of management, and disease-specific therapies for N-linked glycosylation CDG types, organized by organ system. The second part of the review focuses on the therapeutic strategies currently available and under development. We summarize the successful (pre-) clinical application of nutritional therapies, transplantation, activated sugars, gene therapy, and pharmacological chaperones and outline the anticipated expansion of the therapeutic possibilities in CDG. We aim to provide a comprehensive update on the treatable aspects of CDG types involving N-linked glycosylation, with particular emphasis on disease-specific treatment options for the involved organ systems; call for natural history studies; and present current and future therapeutic strategies for CDG.

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“…The underlying abnormalities are complex and in many cases, a somewhat fragile equilibrium seems to exist (Stibler et al, 1996). While thrombosis can be treated with low molecular weight heparin and also rivaroxaban (Lefrère et al, 2018;Altassan et al, 2019), impaired hemostasis and bleeding diathesis should be treated using fresh-frozen plasma rather than single factor substitution in order to avoid unwanted effects (Brucker et al, 2020).…”

Section: Non-causative and Other Treatmentsmentioning

confidence: 99%

Treatment Options in Congenital Disorders of Glycosylation

Park

Marquardt

2021

Front. Genet.

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Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies aimed both at the causative defect and secondary disease manifestations have been transferred from bench to bedside. In this review, we aim to give a detailed overview of the available therapies and rising concepts to treat these ultra-rare diseases.

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Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome

Cited by 4 publications

References 0 publications

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Treatment Options in Congenital Disorders of Glycosylation

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