Life-threatening spontaneous splenic rupture in congenital afibrinogenemia: Two case reports and systematic literature review.

Background: Spontaneous splenic rupture is a rare life-threatening finding with a challenging diagnosis which is largely ignored in the literature. Hematological disorders such as afibrinogenemia are reported to cause bleeding disorders mostly cerebral hemorrhage. Despite being a life-threatening condition, data about spontaneous splenic rupture in patients with Afibrinogenemia remain scarce. Such fatal incidents should warrant diligent efforts to establish and adopt prevention measures in this particularly vulnerable population. We report two new cases of spontaneous splenic rupture in two siblings, diagnosed with congenital afibrinogenemia since early childhood. In addition, we report the results of a systematic review of the literature of cases that have reported the occurrence of splenic rupture in afibrinogenemia, with the aim of filling the gap in the clinical course of such an uncommon event.

Methods: We conduced a systematic review of English and French language publications cataloged in Pubmed, and Google Scholar up to December 2022. We opted to include articles written in other languages if an English language abstract was available and contained the information needed for our report. The following MeSH (medical subject heading) search criteria were used: ''splenic rupture'' AND ''afibrinogenemia.'' The above search strategy was further combined with a supplementary strategy that included the MeSH terms ''spleen'', AND ''rupture'' AND ''Afibrinogenemia''. In order to reduce the selection bias in searching on the Google Scholar database, we searched for articles containing these MeSH terms in their titles.

Results: We reported two cases of splenic rupture in two family members who were diagnosed with afibrinogenemia at the age of 1 year. The splenic rupture was misdiagnosed by clinicians in the brother's case, resulting in his death and presenting as a forensic case. However, the sister underwent a splenectomy one week before her brother's death following the onset of asthenia and acute abdominal pain. Then we conducted a literature review of relevant studies of spontaneous splenic rupture in Afibrinogenemia. A selection of 13 relevant studies was included in the final review, describing a total of 25 cases of spontaneous splenic rupture in Afibrinogenemia. One paper was an international cross-sectional study across 25 different countries involving 211 patients with fibrinogen disorders, showing that 11 patients with afibrinogenemia had developed spontaneous splenic rupture. The remaining 12 articles were case reports or case series, describing a total of 14 cases of atraumatic splenic rupture in afibrinogenemia, ranging from 0 to 28 years old, with a median age of 14.5 years, where the majority were infants (age inferior to 18) with the most cases occurred in the age group of 10-15 years old.

Conclusion: Congenital afibrinogenemia is a rare disease with a wide range of clinical symptoms and with challenging management. While the most common presenting symptoms are bleeding and thrombosis, spontaneous spleen rupture is rare and probably underdiagnosed which consequently may lead to death. Studies about the topic remain scarce, hence, further studies are needed to ascertain this risk and establish target preventive measures for this vulnerable population.