A Rare Case of Severe Hemophilia B Combined with Hematomesenchymal Dysplasia

Fatima Muratova; Zhanna Mussabekova; Maxut Kazymov; Viktor Sturov

doi:10.3889/oamjms.2021.5753

Authors

Fatima Muratova Department of Family Medicine, Semey Medical University, NCJSC, Semey, Republic of Kazakhstan https://orcid.org/0000-0003-2848-5081
Zhanna Mussabekova Department of Family Medicine, Semey Medical University, NCJSC, Semey, Republic of Kazakhstan
Maxut Kazymov Department of Family Medicine, Semey Medical University, NCJSC, Semey, Republic of Kazakhstan
Viktor Sturov Novosibirsk State University, Institute of Medicine and Psychology V. Zelman, Novosibirsk, Russia

DOI:

https://doi.org/10.3889/oamjms.2021.5753

Keywords:

Children, Hemophilia, Hematomesenchymal dysplasia, Outcome

Abstract

BACKGROUND: The prevalence of hemophilia B in the global population is approximately 1:60,000. Undifferentiated systemic mesenchymal dysplasia (uSMD) is diagnosed rather frequently, about 1:5, according to Russian authors; no data on uSMD prevalence in other countries are available. The combination of hemophilia and uSMD has grouped under the term hematomesenchymal dysplasia (HMD). This combination significantly worsens the clinical picture, prognosis, and quality of life of the patient.

AIM: In this article, we present a rare clinical case of a child with a combination of hemophilia B and HMD.

CASE REPORT: A clinical case of a male patient, 5 years old with hemophilia B, severe form combined with HMD, complicated by hemothorax, abscessed pulmonary lobe hematoma has presented. The presence of HMD and the above complications had an unfavorable effect on the severity of the clinical picture and the abnormal response to treatment. The main diagnostic procedures were the assessment of the phenotypic signs of HMD in combination with laboratory and instrumental examination methods such as ultrasound, computed tomography (CT) scan, and echocardiography. Vital treatment is factor IX replacement therapy and supportive one.

CONCLUSION: This clinical example highlights the importance of clinical alertness to hereditary coagulopathies, which often lead to life threatening, sometimes disabling complications that significantly reduce the quality of life of children with hemophilia. Consequently, full-scale epidemiological studies of the prevalence of HMD in the population are an urgent task for the near future.

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References

Babtseva AF, Shanova OV, Boychenko TE, Arutyunyan KA, Romantsova EB. Connective Tissue Dysplasia in Children and Adolescents. Blagoveshchensk: Educational Guidance for Interns and Residents Studying Pediatrics, Amur State Medical Academy; 2010. p. 85.

Firsova LV, Sturov VG, Kovynev IB. Disorders of blood coagulation final stage in children with hematomezenchimal dysplasia syndrome under conditions of background surgical pathology. Bull SO RAMN. 2014;34(6):54-60.

Centers for Disease Control and Prevention. National Center on Birth Defects and Developmental Disabilities. Atlanta, GA: Centers for Disease Control and Prevention; 2021. https://doi.org/10.1037/e303462004-001 DOI: https://doi.org/10.1037/e303462004-001

Butterfield JS, Hege KM, Herzog RW, Kaczmarek R. A molecular revolution in the treatment of hemophilia. Mol Ther. 2020;28(4):997-15. https://doi.org/10.1016/j.ymthe.2019.11.006 PMid:31843450 DOI: https://doi.org/10.1016/j.ymthe.2019.11.006

National Hemophilia Foundation. Available from: http://www. hemophilia.org/About-Us/Fast-Facts. [Last accessed on 2020 Dec 15].

Dashkevich EV, Olkhovik YV, Rud MS, Volobuyeva VV, Mikhailovskaya EN. Analysis of the prevalence of hemophilia in the republic of Belarus. Med News. 2014;8:29-30.

Chernov VM. Clinical Significance of Medical and Economic Monitoring of Hemoblastosis and Hereditary Coagulopathies in Children. Moscow: Dissertation of Doctor of Medicine Russian State Medical University Moscow; 2003. p. 291. Available from: http://www.dslib.net/infekcion-bolezni/klinicheskoe-znachenie-mediko-jekonomicheskogo-monitoringa-gemoblastozov-i.html. [Last accessed on 2021 Apr 27].

Marlar RA, Strandberg K, Shima M, Adcock DM. Clinical utility and impact of the use of the chromogenic vs one-stage factor activity assays in haemophilia A and B. Eur J Haematol. 2020;104(1):3-14. https://doi.org/10.1111/ejh.13339 PMid:31606899 DOI: https://doi.org/10.1111/ejh.13339

Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, et al. Establishing the prevalence and prevalence at birth of hemophilia in males: A meta-analytic approach using national registries. Ann Intern Med. 2019;171(8):540-6. https://doi.org/10.7326/m19-1208 PMid:31499529 DOI: https://doi.org/10.7326/M19-1208

Ratnoff OD, Davie EW. The Activation of Christmas factor (factor IX) by activated plasma thromboplastin antecedent (activated factor XI). Biochemistry. 1962;1(4):677-85. https://doi.org/10.1021/bi00910a022 DOI: https://doi.org/10.1021/bi00910a022

Ljung R, Auerswald G, Benson G, Dolan G, Duffy A, Hermans C, et al. Inhibitors in haemophilia A and B: Management of bleeds, inhibitor eradication and strategies for difficult-to-treat patients. Eur J Haematol. 2019;102(2):111-22. https://doi.org/10.1111/ejh.13193 PMid:30411401 DOI: https://doi.org/10.1111/ejh.13193

Nathwani AC. Gene therapy for hemophilia. Hematology Am Soc Hematol Educ Program. 2019;2019(1):1-8. PMid:31808868 DOI: https://doi.org/10.1182/hematology.2019000007

O’Hara J, Walsh S, Camp C, Mazza G, Carroll L, Hoxer C, et al. The impact of severe haemophilia and the presence of target joints on health-related quality-of-life. Health Qual Life Outcomes. 2018;16(1):84. https://doi.org/10.1186/s12955-018-0908-9 PMid:29720192 DOI: https://doi.org/10.1186/s12955-018-0908-9

Karslieva MV. Endothelial-platelet Dysfunction in Young Patients with Connective Tissue Dysplasia. Author’s Abstract of the Thesis for the Degree of Candidate of Medical Sciences. Stavropol; 2006. Available from: http://www.medical-diss.com/medicina/endotelialno-trombotsitarnaya-disfunktsiya-u-molodyh-patsientov-s-displaziey-soedinitelnoy-tkani#ixzz6gtfyGgTA. [Last accessed on 2021 Apr 28].

Martynov AI, Nechaeva GI, Akatova EV, Vershinina MV, Viktorova IA, Goltsova LG, et al. Clinical recommendations of the Russian scientific medical society of therapists for the diagnosis, treatment and rehabilitation of patients with connective tissue dysplasia. Med Bull North Caucasus. 2018;13(1-2):137-209. https://doi.org/10.14300/mnnc.2016.11001 DOI: https://doi.org/10.14300/mnnc.2016.11001

Hickey SE, Varga EA, Kerlin B. Epidemiology of bleeding symptoms and hypermobile Ehlers-Danlos syndrome in paediatrics. Hemophilia. 2016;22(5):490-3. https://doi.org/10.1111/hae.13063 PMid:27562077 DOI: https://doi.org/10.1111/hae.13063

Sturov VG. Disorder of Blood Coagulation End-stage in Children and Adolescents with Systemic Mesenchymal Dysplasia Syndrome. Author’s Abstract of Dissertation for the Degree of Doctor of Medical Sciences. Novosibirsk: 2008. Available from: http://www.medical-diss.com/medicina/narusheniya-konechnogo-etapa-svertyvaniya-krovi-u-detey-i-podrostkov-s-sindromom-sistemnoy-mezenhimalnoy-displazii#ixzz5SbCCkGXy. [Last accessed on 2020 APr 29].

Kalayeva GY, Khokhlova OI. Undifferentiated connective tissue dysplasia in adolescents. Russ Bull Perinatol Pediatr. 2014;59(5):52-8.