Abstract

Case Report

A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy

Daniel Halperin*, Sue Pavord and Bethan Myers

Published: 12 August, 2020 | Volume 3 - Issue 2 | Pages: 090-092

Bleeding diatheses due to platelet-related disorders can present challenges to treating clinicians especially in the context of peri- and post-partum patients in the obstetric setting. TARS is an inherited disorder characterised by reduced bone marrow platelet production, skeletal deformities affecting radii and other limbs; cardiac, renal, and other heterogeneous anomalies may occur. It is caused by co-inheritance of a microdeletion and a nucleotide polymorphism in the RBM8A gene on chromosome 1.

Bleeding phenotype is more severe than platelet numbers might predict especially in infants but improves with age. There is minimal literature regarding impact in pregnancy and puerperium.

We describe management of three pregnancies in the haematology-obstetrics clinic. As platelet counts normally decrease through pregnancy, close monitoring is required in TAR syndrome. No major bleeding was seen antenatally but two required platelet transfusion during labour. No other treatment definitely improves bleeding, although case reports of steroids claim variable success.

Tranexamic acid may be helpful, and thrombopoietin agonists represent a potential future option. 

Read Full Article HTML DOI: 10.29328/journal.cjog.1001056 Cite this Article Read Full Article PDF

References

  1. Ballmaier M, Schulze H, Strauss G, Cherkaoui K, Wittner N, et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin Blood. 1997; 90: 612-619. PubMed: https://pubmed.ncbi.nlm.nih.gov/9226161/
  2. Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002; 39: 876-881. PubMed: https://pubmed.ncbi.nlm.nih.gov/12471199/
  3. Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, et al. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). 1969; 48: 411-439. PubMed: https://pubmed.ncbi.nlm.nih.gov/4951233/
  4. Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007; 80: 232-2400. PubMed: https://pubmed.ncbi.nlm.nih.gov/17236129/
  5. Estcourt LJ, Birchall J, Allard S, Bassey SJ, Hersey P, et al. Guidelines for the use of platelet transfusions. Br J Haematol. 2017: 176; 365-394. PubMed: https://pubmed.ncbi.nlm.nih.gov/28009056/
  6. Hunt BJ, Lyons G. Platelet Counts and Obstetric Analgesia and Anaesthesia Prepared by: Gordon Lyons FRCA MD Beverley J Hunt, FRCP, FRCPath, MD Obstetric Anaesthesia Professor of Thrombosis & St James’ University Hospital Haemostasis. 2017.

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