Startseite Acquired von Willebrand’s syndrome caused by primary hypothyroidism in a 5-year-old girl
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Acquired von Willebrand’s syndrome caused by primary hypothyroidism in a 5-year-old girl

  • Claire Flot , Isabelle Oliver , Philippe Caron , Frédérique Savagner , Maithé Tauber , Ségolène Claeyssens und Thomas Edouard EMAIL logo
Veröffentlicht/Copyright: 31. August 2019
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 32 Heft 11

Abstract

Background

Acquired von Willebrand’s syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto’s thyroiditis.

Case presentation

A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia and prolonged activated partial thromboplastin time (aPTT). Her developmental and learning skills were normal. The physical examination revealed severe short stature (height SDS: −3.6) with overweight (body mass index SDS: 1.8) and clinical sign of hypothyroidism. Laboratory investigation revealed aVWS type 1 associated with severe primary hypothyroidism. Anti-thyroid antibodies were negative and thyroid ultrasound found thyroid hypoplasia in favour of congenital hypothyroidism. Restoration of euthyroidism was associated with increased growth velocity and normalisation of coagulation parameters.

Conclusion

This report highlights the importance of excluding an underlying pathology (including hypothyroidism) in children with suspected VWS, even in young age.

Keywords: acquired von Willebrand’s syndrome; children; hypothyroidism
Corresponding author: Thomas Edouard, MD, PhD, Paediatric Endocrine Unit, Children’s Hospital, Purpan University Hospital, 330 avenue de Grande-Bretagne TSA 70034, 31059 Toulouse Cedex 9, France, Phone: +33 (0) 5 34 55 85 55, Fax: +33 (0) 5 34 55 85 58

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organisation(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

  6. Conflict of interest: None declared.

References

1. Federici AB, Budde U, Castaman G, Rand JH, Tiede A. Current diagnostic and therapeutic approaches to patients with acquired von Willebrand syndrome: a 2013 update. Semin Thromb Hemost 2013;39:191–201.10.1055/s-0033-1334867Suche in Google Scholar PubMed

2. Mital A. Acquired von Willebrand syndrome. Adv Clin Exp Med 2016;25:1337–44.10.17219/acem/64942Suche in Google Scholar PubMed

3. Federici AB. Acquired von Willebrand syndrome associated with hypothyroidism: a mild bleeding disorder to be further investigated. Semin Thromb Hemost 2011;37:35–40.10.1055/s-0030-1270069Suche in Google Scholar PubMed

4. Manfredi E, van Zaane B, Gerdes VE, Brandjes DP, Squizzato A. Hypothyroidism and acquired von Willebrand’s syndrome: a systematic review. Haemophilia 2008;14:423–33.10.1111/j.1365-2516.2007.01642.xSuche in Google Scholar PubMed

5. Federici AB, Rand JH, Bucciarelli P, Budde U, van Genderen PJ, et al. Acquired von Willebrand syndrome: data from an international registry. Thromb Haemost 2000;84:345–9.10.1055/s-0037-1614018Suche in Google Scholar PubMed

6. Franchini M, Veneri D, Lippi G. Analysis of thyroid hormone status in 131 consecutive individuals with low von Willebrand factor levels. Thromb Haemost 2005;93:392–3.10.1055/s-0037-1616250Suche in Google Scholar PubMed

7. Stuijver DJ, Piantanida E, van Zaane B, Galli L, Romualdi E, et al. Acquired von Willebrand syndrome in patients with overt hypothyroidism: a prospective cohort study. Haemophilia 2014;20:326–32.10.1111/hae.12275Suche in Google Scholar PubMed

8. Blesing NE, Hambley H, McDonald GA. Acquired von Willebrand’s disease and hypothyroidism: report of a case presenting with menorrhagia. Postgrad Med J 1990;66:474–6.10.1136/pgmj.66.776.474Suche in Google Scholar PubMed

9. Bruggers CS, McElligott K, Rallison ML. Acquired von Willebrand disease in twins with autoimmune hypothyroidism: response to desmopressin and L-thyroxine therapy. J Pediatr 1994;125(6 Pt 1):911–3.10.1016/S0022-3476(05)82007-4Suche in Google Scholar PubMed

10. Coccia MR, Barnes HV. Hypothyroidism and acquired von Willebrand disease. J Adolesc Health 1991;12:152–4.10.1016/0197-0070(91)90459-YSuche in Google Scholar PubMed

11. Concha R, Borzone MA, Castillo M, Rossle A, Quevedo I. [Acquired von Willebrand disease as an unusual manifestation of primary hypothyroidism: report of two cases]. Rev Med Chil 2005;133:813–6.10.4067/S0034-98872005000700009Suche in Google Scholar PubMed

12. Dalton RG, Dewar MS, Savidge GF, Kernoff PB, Matthews KB, et al. Hypothyroidism as a cause of acquired von Willebrand’s disease. Lancet 1987;1:1007–9.10.1016/S0140-6736(87)92272-0Suche in Google Scholar PubMed

13. Galli-Tsinopoulou A, Stylianou C, Papaioannou G, Nousia- Arvanitakis S. Acquired von Willebrand’s syndrome resulting from untreated hypothyroidism in two prepubertal girls. Haemophilia 2006;12:687–9.10.1111/j.1365-2516.2006.01355.xSuche in Google Scholar PubMed

14. Setian N, Tanaka CM, Damiani D, Dichtchekenian V, Carneiro JD, et al. Hypopituitarism, deficiency of factors V and VIII and von Willebrand factor: an uncommon association. J Pediatr Endocrinol Metab 2002;15:331–3.10.1515/JPEM.2002.15.3.331Suche in Google Scholar PubMed

15. Smith SR, Auger MJ. Hypothyroidism and von Willebrand’s disease. Lancet 1987;1:1314–5.10.1016/S0140-6736(87)90565-4Suche in Google Scholar PubMed

16. Viswanath AK, Mayo A, King D, Bevan JS, editors. Willebrand’s disease secondary to autoimmune hypothyroidism. Brighton, UK: 23rd Joint Meeting of the British Endocrine Societies; 2004:22–4.Suche in Google Scholar

17. Olukman O, Sahin U, Kavakli T, Kavakli K. Investigation of acquired von Willebrand Syndrome in children with hypothyroidism: reversal after treatment with thyroxine. J Pediatr Endocrinol Metab 2010;23:967–74.10.1515/jpem.2010.155Suche in Google Scholar PubMed

18. Szinnai G. Genetics of normal and abnormal thyroid development in humans. Best Pract Res Clin Endocrinol Metab 2014;28:133–50.10.1016/j.beem.2013.08.005Suche in Google Scholar PubMed

19. Callaghan MU, Wong TE, Federici AB. Treatment of acquired von Willebrand syndrome in childhood. Blood 2013;122:2019–22.10.1182/blood-2012-10-435719Suche in Google Scholar PubMed

20. Marongiu F, Barcellona D, Mameli A, Mariotti S. Thyroid disorders and hypocoagulability. Semin Thromb Hemost 2011;37:11–6.10.1055/s-0030-1270066Suche in Google Scholar PubMed

Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2019-0082).

Received: 2019-02-13
Accepted: 2019-07-25
Published Online: 2019-08-31
Published in Print: 2019-11-26

©2019 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Hypo- and hyperthyroidism in early life – new developments
  4. Letters to the Editor
  5. Optic nerve sheath diameter appraisal in children affected by diabetic ketoacidosis
  6. Optic nerve sheath diameter ultrasound measurement to evaluate cerebral edema in children with diabetic ketoacidosis
  7. Original Articles
  8. Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy
  9. Phenylketonuric patients represent their disease
  10. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
  11. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant
  12. Sex differences in infant body composition emerge in the first 5 months of life
  13. Characterization of the duration of treatment with diazoxide in infants with prolonged hyperinsulinism (PHI)
  14. Clinical, biochemical and gender characteristics of 97 prepubertal children with premature adrenarche
  15. The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling
  16. The role of vitamin D replacement therapy in serum FGF23 concentration in children with myelomeningocele compared with healthy children – a preliminary study
  17. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism
  18. Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand
  19. Case Reports
  20. A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions
  21. A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
  22. Acquired von Willebrand’s syndrome caused by primary hypothyroidism in a 5-year-old girl
  23. Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report
https://doi.org/10.1515/jpem-2019-0082
Schlagwörter für diesen Artikel
acquired von Willebrand’s syndrome; children; hypothyroidism

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Hypo- and hyperthyroidism in early life – new developments
  4. Letters to the Editor
  5. Optic nerve sheath diameter appraisal in children affected by diabetic ketoacidosis
  6. Optic nerve sheath diameter ultrasound measurement to evaluate cerebral edema in children with diabetic ketoacidosis
  7. Original Articles
  8. Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy
  9. Phenylketonuric patients represent their disease
  10. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
  11. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant
  12. Sex differences in infant body composition emerge in the first 5 months of life
  13. Characterization of the duration of treatment with diazoxide in infants with prolonged hyperinsulinism (PHI)
  14. Clinical, biochemical and gender characteristics of 97 prepubertal children with premature adrenarche
  15. The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling
  16. The role of vitamin D replacement therapy in serum FGF23 concentration in children with myelomeningocele compared with healthy children – a preliminary study
  17. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism
  18. Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand
  19. Case Reports
  20. A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions
  21. A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
  22. Acquired von Willebrand’s syndrome caused by primary hypothyroidism in a 5-year-old girl
  23. Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report
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