Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade

Abstract

Factor X deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. The symptoms of this disorder can occur at any age, although most severe cases appear in childhood. The rarity of this condition has not allowed for the establishment of evidence‐based management guidelines, and thus, individuals afflicted with factor X deficiency are treated based on limited literature and the opinions of clinicians with extensive experience. In this case report, we discuss a unique presentation of a 38-year-old male who was found to have cardiac tamponade as a result of his newly diagnosed inherited moderate factor X deficiency. This was discovered by obtaining a factor X activity assay and confirmed with genetic testing which demonstrated a missense variant on the factor X gene on chromosome 13. His management involved correction of his factor X deficiency with fresh frozen plasma, a pericardiocentesis, and placement of a pericardial window. He has been asymptomatic and without hemorrhagic episodes for the 10 months following his discharge.

“I have been refused to be treated by three dentists”: Barriers to patient care

“…It is synthesized normally in the liver and plays a significant role in the common coagulation pathway 2‐4 . It transforms prothrombin into thrombin 3,5 . Factor X presents in the bloodstream in an inactive form and its activation process takes place through injury to a blood vessel 3 .…”

“…Affected persons with the homozygous deficiency form show severe bleeding symptoms at a younger age, while persons with the heterozygous form develop symptoms of hemorrhage in the case of severe trauma or if they undergo a major surgical procedure. Otherwise, the heterozygous form can be asymptomatic 5 …”

“…Meanwhile, the acquired form of factor X deficiency occurs ordinarily as a result of amyloidosis 5,8 . Patients with factor X deficiency can be classified into three groups on the basis of plasma factor X levels (ie, mild [6%‐20%], moderate [1%‐5%], or severe [< 1%]) 1…”

The first reported case of factor X deficiency in a Filipino child – case study

“…The first reported case of factor X deficiency in a Filipino child -case study F actor X (FX) deficiency is an extremely rare inherited bleeding disorder [1] . It is an autosomal recessive disorder estimated to affect one in 1,000,000 people in the general population [2] .…”

“…It is an autosomal recessive disorder estimated to affect one in 1,000,000 people in the general population [2] . Characterised by a lack in the production of FX clotting factor, FX deficiency is classified as severe, moderate or mild disease depending on the functional assay level (severe <1%; moderate 1-4%; mild 6-10%) [1] . The amount of residual protein activity correlates with the severity of the disease.…”