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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 5-7

A rare case of factor XIII deficiency presenting with scrotal hematoma in an adolescent


Department of Pediatrics, B. J. Government Medical College, Pune, Maharashtra, India

Date of Submission29-Sep-2020
Date of Decision06-Nov-2020
Date of Acceptance17-Nov-2020
Date of Web Publication27-Feb-2021

Correspondence Address:
Dr. Rajesh K Kulkarni
Department of Pediatrics, B.J. Government Medical College, Pune, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ipcares.ipcares_13_21

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  Abstract 

Background: Factor XIII deficiency is a rare disorder that may be congenital or acquired and is considered if a coagulation disorder is suspected, but the initial laboratory investigations are normal. Clinical Description: A 10-year-old boy presented with a scrotal swelling and pain following minor trauma. Local examination showed redness of overlying scrotal skin with tenderness on palpation. Management: Initial laboratory investigations for coagulation (prothrombin time/activated partial thromboplastin time/thrombin time) were normal. The diagnosis of factor XIII deficiency was clinched by abnormal clot solubility test. Child was treated with fresh-frozen plasma. Conclusion: Scrotal hematoma is a rare site for bleeding in factor XIII deficiency, which must be suspected if clinical suspicion of coagulation disorder is high and initial laboratory tests for coagulation are normal.

Keywords: Coagulation defect, factor XIII deficiency, scrotal hematoma


How to cite this article:
Kulkarni RK, Vartak S, Karandikar N, Kinikar A. A rare case of factor XIII deficiency presenting with scrotal hematoma in an adolescent. Indian Pediatr Case Rep 2021;1:5-7

How to cite this URL:
Kulkarni RK, Vartak S, Karandikar N, Kinikar A. A rare case of factor XIII deficiency presenting with scrotal hematoma in an adolescent. Indian Pediatr Case Rep [serial online] 2021 [cited 2021 May 8];1:5-7. Available from: http://www.ipcares.org/text.asp?2021/1/1/5/310211

Factor XIII deficiency is a rare bleeding disorder that may be congenital or acquired. A hemorrhagic diathesis due to a congenital deficiency of fibrin stabilizing factor was first described in 1960 by Duckert et al.[1] Factor XIII consists of two subunits: Subunit A and subunit B. Most of the factor XIII deficiency states are caused by mutations in subunit A; very few have a mutation in subunit B.[2] Factor XIII deficiency is inherited as an autosomal recessive disorder. One of the characteristic abnormalities of factor XIII deficiency is delayed separation of the umbilical cord and prolonged bleeding from the umbilical stump.[3] Thirty percent of the affected individuals may also experience spontaneous intracranial hemorrhages, about 25% experience poor or delayed wound healing and others may have enhanced bleeding after trauma or surgery.[3]

We report an extremely rare presentation of factor XIII deficiency in a 10-year-old boy who developed scrotal hematoma following minor trauma.


  Clinical Description Top


A 10-year-old male child presented in the pediatric casualty with swelling and pain of the scrotum following a minor trauma while riding a bicycle. The child was the youngest of three children and was born of third-degree consanguineous marriage. History of bleeding from the umbilicus on the 2nd day of life was present. In the past, parents had also noticed prolong bleeding following trivial trauma, delayed wound healing, and easy bruising. There was no history of similar complaints in any other family member.

On examination, the child was afebrile and hemodynamically stable. General and systemic examination including abdominal examination (for hepatosplenomegaly or other palpable masses) was unremarkable. On local examination of the scrotum, swelling limited to the scrotal sac was present. Redness was present over the scrotum with tenderness on palpation. [Figure 1]a shows scrotal hematoma on admission, whereas [Figure 1]b shows resolving scrotal hematoma on day 4 of admission.
Figure 1: Picture showing the progression of the scrotal hematoma. (a) At presentation, (b) 4 days

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Management and Outcome

A scrotal ultrasonogram was done which showed a scrotal hematoma. Doppler study showed that the vascularity of the testes was not compromised. Based on history and physical examination, a clotting disorder was suspected. A complete hemogram was done which showed a normal platelet count of 350,000/mm3 with normal platelet morphology on peripheral smear. Prothrombin time (PT) was 14.5 s (international normalized ratio of 1.0) and activated partial thromboplastin time (APTT) was 34.3 s (control of 35.2 s), thrombin time was 14.6 s with a control of 14.5 s. With the significant history of prolonged bleeding from the cord at birth and initial laboratory investigations normal, factor XIII deficiency was suspected. A clot solubility test was done which was positive suggesting factor XIII deficiency. A mixing study was performed, and it ruled out the possibility of acquired factor XIII deficiency. We could not get factor XIII levels or genetic testing done due to nonaffordability.

The child was managed conservatively with fresh-frozen plasma transfusion (due to unavailability of factor XIII), scrotal elevation and paracetamol for pain relief, by 4 days the swelling had significantly subsided, and the child was discharged with the advice of avoiding contact sports.


  Discussion Top


Congenital factor XIII deficiency is a rare bleeding diathesis, with an incidence of 1 in 4 million in the general population.[4] It affects males and females equally and can present at any age, but most cases are diagnosed in infancy. Factor XIII is responsible for the stabilisation of the initial fibrin clot. Mutations of the F13A1 or the F13b gene result in deficient levels of functional factor XIII. Deficiency of factor XIII results in the symptoms of delayed bleeding due to the instability of the clot. Clinical symptoms include mild bruising, delayed separation and bleeding from the umbilical stump in neonates, poor wound healing, and recurrent spontaneous abortions in women. Rare instances with haemarthroses have been described.[5] Usual screening tests for hemostasis are normal in patients with factor XIII deficiency. Screening tests for factor XIII deficiency are based on the fact that there is increased solubility of the clot due to the failure of the cross-linking of fibrin polymers. The normal clot remains insoluble in the presence of 5M urea, whereas in a patient with factor XIII deficiency, the clot dissolves.[6] The dissolution of the clot suggests factor XIII activity of <1%. Most patients with factor XIII activity level <5% are symptomatic from bleeding, and the severity of bleeding correlates relatively well with plasma factor XIII levels. A value below 15% (15 international units/dL) was associated with an increased risk of spontaneous major bleeding.[7]

In our case, there was a history of consanguinity, bleeding from umbilical stump on the 2nd day of life, prolonged bleeding from minor wounds, and easy bruising with normal initial screening tests for hemostasis and a positive clot solubility test. To the best of our knowledge, scrotal hematoma has not been reported in factor XIII deficiency.

Treatment includes the replacement of the deficient factor XIII. Fresh frozen plasma and cryoprecipitate have been used, but these have increased the risk of allergic reactions and transmitting infections. Several factor XIII replacement products are available for the treatment and prophylaxis of bleeding in patients with factor XIII deficiency including recombinant factor XIII A subunit, and factor XIII purified from human plasma.[8] Factor XIII deficiency should be suspected in a patient with a suspected coagulation disorder with normal initial screening tests for hemostasis. Scrotal hematoma is a very unusual manifestation of factor XIII deficiency.



Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for the images, and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Duckert F, Jung E, Shmerling DH. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb Diath Haemorrh 1960;5:179-86.  Back to cited text no. 1
    
2.
Anwar R, Miloszewski KJ. Factor XIII deficiency. Br J Haematol 1999;107:468-84.  Back to cited text no. 2
    
3.
Bertamino M, Banov L, Molinari AC. Diagnosis and management of severe congenital factor XIII deficiency in the Emergency Department: Lessons from a “model” family. Blood Transfus 2015;13:324-7.  Back to cited text no. 3
    
4.
Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008;14:1190-200.  Back to cited text no. 4
    
5.
Biswas A, Ivaskevicius V, Thomas A, et al. Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms. Hamostaseologie 2014;34:160-6.  Back to cited text no. 5
    
6.
Dorgalaleh A, Rashidpanah J. Blood coagulation factor XIII and factor XIII deficiency. Blood Rev 2016;30:461-75.  Back to cited text no. 6
    
7.
Menegatti M, Palla R, Boscarino M, et al. Minimal factor XIII activity level to prevent major spontaneous bleeds. J Thromb Haemost 2017;15:1728-36.  Back to cited text no. 7
    
8.
Gootenberg JE. Factor concentrates for the treatment of factor XIII deficiency. Curr Opin Hematol 1998;5:372-5.  Back to cited text no. 8
    


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