eMedicine Specialties > Pediatrics: General Medicine > Hematology

Thrombocytopenia-Absent Radius Syndrome: Follow-up

Author: John K Wu, MBBS, MSc, FRCP(C), Clinical Professor, Department of Pediatrics, Division of Hematology-Oncology-BMT, University of British Columbia, Canada
Coauthor(s): Michelle P Wong, MD, Staff Physician, Department of Hematopathology, University of British Columbia Faculty of Medicine, Canada; Suzan Williams, MD, MSc, FRCPC, Staff Physician, Division of Hematology, The Hospital for Sick Children, Canada
Contributor Information and Disclosures

Updated: Sep 17, 2009

Follow-up

Further Inpatient Care

  • Monitor response to platelet transfusions through observation of hemostasis and rise in platelet counts in patients with thrombocytopenia-absent radius (TAR) syndrome.

Further Outpatient Care

  • Monitor the need for and response to platelet transfusions by measuring platelet counts.

Deterrence/Prevention

  • Although the patient is thrombocytopenic, injury-prevention strategies are indicated.
  • Patients should avoid contact sports and use appropriate protective gear (eg, helmets, padding) when participating in sports or leisure activities.

Complications

  • Complications arise from hemorrhage and hemorrhagic insults, especially intracranial hemorrhage.

Prognosis

  • The clinical course is one of episodic, severe thrombocytopenia superimposed on a background of persistent thrombocytopenia. The frequency of thrombocytopenic episodes decreases with age. By school age, near-normal platelet counts are expected. If a patient survives the initial 2 years of life, life expectancy is normal.
  • The risk of morbidity may be increased. Case reports describe acute leukemia in both pediatric and adult patients with TAR syndrome. This development is not entirely unexpected because other syndromes of bone marrow failure, such as Fanconi anemia and Shwachman-Diamond syndrome, are associated with an increased risk of malignancies. Given the rare incidence of this syndrome, identifying a chance association or a causal relationship is difficult.

Patient Education

  • Patients and families must be educated about the risk of hemorrhagic injury during episodes of thrombocytopenia, about signs and symptoms indicative of thrombocytopenia (eg, bruising, petechiae, mucosal bleeding), and about the need to promptly seek medical attention during these episodes.
  • For excellent patient education resources, visit eMedicine's Procedures Center. Also, see eMedicine's patient education article Bone Marrow Biopsy.

Miscellaneous

Medicolegal Pitfalls

  • Failure to counsel families with members who have thrombocytopenia-absent radius (TAR) syndrome on the risks of hemorrhage associated with thrombocytopenia and the need for prompt management during thrombocytopenic episodes could expose the practitioner to liability.

Special Concerns

  • Although no genetic anomaly is clearly associated with TAR syndrome, several patients with an apparent autosomal recessive pattern are reported in an extended family lineage.
  • Families benefit from genetic counseling after one affected child is identified.
 


More on Thrombocytopenia-Absent Radius Syndrome

Overview: Thrombocytopenia-Absent Radius Syndrome
Differential Diagnoses & Workup: Thrombocytopenia-Absent Radius Syndrome
Treatment & Medication: Thrombocytopenia-Absent Radius Syndrome
Follow-up: Thrombocytopenia-Absent Radius Syndrome
Multimedia: Thrombocytopenia-Absent Radius Syndrome
References
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References

  1. Ballmaier M, Schulze H, Strauss G, et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood. Jul 15 1997;90(2):612-9. [Medline]. [Full Text].

  2. Sekine I, Hagiwara T, Miyazaki H, et al. Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro. J Pediatr Hematol Oncol. Jan-Feb 1998;20(1):74-8. [Medline].

  3. Letestu R, Vitrat N, Masse A, et al. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood. Mar 1 2000;95(5):1633-41. [Medline]. [Full Text].

  4. Geddis AE. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am. Apr 2009;23(2):321-31. [Medline].

  5. Fleischman RA, Letestu R, Mi X, et al. Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. Br J Haematol. Feb 2002;116(2):367-75. [Medline].

  6. Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. Feb 2007;80(2):232-40. [Medline].

  7. Hedberg VA, Lipton JM. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol. Spring 1988;10(1):51-64. [Medline].

  8. Greenhalgh KL, Howell RT, Bottani A, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. Dec 2002;39(12):876-81. [Medline]. [Full Text].

  9. Hall JG, Levin J, Kuhn JP, et al. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). Nov 1969;48(6):411-39. [Medline].

  10. Sachdev P. Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. Aust N Z J Psychiatry. Sep 2005;39(9):841-2. [Medline].

  11. Skorka A, Bielicka-Cymermann J, Gieruszczak-Bialek D, Korniszewski L. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genet Couns. 2005;16(4):377-82. [Medline].

  12. Weinblatt M, Petrikovsky B, Bialer M, et al. Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome. Prenat Diagn. Sep 1994;14(9):892-6. [Medline].

  13. Dempfle CE, Burck C, Grutzmacher T et al. Increase in platelet count in response to rHuEpo in patient with thromboctopenia and absent radii syndrome. Blood. 2001;97 (7):2189-90. [Medline]. [Full Text].

  14. Aquino VM, Mustafa MM, Vackus L et al. Recombinant interleukin-6 in the treatment of congenital thrombocytopenia associated with absent radii. J Pediatr Hematol Oncol. 1998;20 (5):474-6. [Medline].

  15. Fadoo Z, Naqvi SM. Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome. J Pediatr Hematol Oncol. Feb 2002;24(2):134-5. [Medline].

  16. [Guideline] Finnish Medical Society Duodecim. Thrombocytopenia. In: EBM Guidelines. Evidence-Based Medicine [Internet]. Helsinki, Finland: Wiley Interscience. John Wiley & Sons; 2007 Apr 27. [Full Text].

  17. MacDonald MR, Schaefer GB, Olney AH, Patton DF. Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. Am J Med Genet. Mar 1 1994;50(1):46-50. [Medline].

  18. McLaurin TM, Bukrey CD, Lovett RJ, Mochel DM. Management of thrombocytopenia-absent radius (TAR) syndrome. J Pediatr Orthop. May-Jun 1999;19(3):289-96. [Medline].

  19. Urban M, Opitz C, Bommer C, et al. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. Am J Med Genet. Sep 23 1998;79(3):155-60. [Medline].

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Further Reading

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Keywords

thrombocytopenia-absent radius syndrome, TAR syndrome, tetraphocomelia-thrombocytopenia syndrome, hypomegakaryocytic thrombocytopenia, absent radii, gene, gene, rubella, Roberts syndrome, cow's milk allergy, purpura, petechiae, epistaxis, melena, hemoptysis, hematuria, hematemesis, mental retardation, diarrhea, bilateral radial aplasia, radial club hand, hypoplastic carpals and phalanges, hypoplastic ulnae, humeri, shoulder girdles, syndactyly, clinodactyly, hip dislocation, femoral torsion, tetralogy of Fallot, atrial septal defect, ventricular septal defect, VSD, micrognathia, hypertelorism, Meckel diverticulum, hyperhidrosis, short stature, Fanconi anemia, Blackfan-Diamond syndrome, treatment, diagnosis

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Contributor Information and Disclosures

Author

John K Wu, MBBS, MSc, FRCP(C), Clinical Professor, Department of Pediatrics, Division of Hematology-Oncology-BMT, University of British Columbia, Canada
John K Wu, MBBS, MSc, FRCP(C) is a member of the following medical societies: American Society of Hematology and Canadian Medical Association
Disclosure: Nothing to disclose.

Coauthor(s)

Michelle P Wong, MD, Staff Physician, Department of Hematopathology, University of British Columbia Faculty of Medicine, Canada
Disclosure: Nothing to disclose.

Suzan Williams, MD, MSc, FRCPC, Staff Physician, Division of Hematology, The Hospital for Sick Children, Canada
Suzan Williams, MD, MSc, FRCPC is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, Canadian Medical Association, Canadian Paediatric Society, College of Physicians and Surgeons of Ontario, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

J Martin Johnston, MD, Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Pediatric Hematology/Oncology, Backus Children's Hospital; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital
J Martin Johnston, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

James L Harper, MD, Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center
James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD, King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine
Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

 
 
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