What is the prevalence of Factor XIII Deficiency?

Factor XIII deficiency is an ultra-rare bleeding disorder with an estimated global prevalence of approximately 1 in 1 to 2 million individuals. Because the condition is frequently underdiagnosed or misdiagnosed due to normal routine coagulation screening tests, the true incidence and prevalence of Factor XIII deficiency are likely higher than reported clinical data suggests.

What is the prevalence and incidence of Factor XIII deficiency?

Factor XIII deficiency is classified as an ultra-rare disorder. While epidemiological data is limited, the prevalence is estimated at 1 per 1,000,000 to 2,000,000 people worldwide. Because the condition does not typically cause abnormalities in standard "clotting time" tests like PT or aPTT, many cases remain undetected until a major bleeding event or surgery occurs. Within our own DiseaseMaps.org community, 5 members have identified as living with Factor XIII deficiency, highlighting the rarity of the condition and the value of global data sharing.

Does Factor XIII deficiency affect specific populations or genders?

Factor XIII deficiency is inherited in an autosomal recessive pattern, meaning it affects males and females with equal frequency. While it can occur in any ethnic group, the prevalence is notably higher in populations with higher rates of consanguinity (marriages between blood relatives), where the inheritance of recessive traits becomes more statistically likely.

At what age does Factor XIII deficiency typically present?

The age of onset for Factor XIII deficiency is often early, though it varies based on the severity of the mutation:

• Neonatal: A classic sign is umbilical cord stump bleeding, which occurs in approximately 80% of severe cases.


• Pediatric: Frequent bruising, hematomas, and delayed wound healing are common during childhood.


• Adults: Many individuals may not receive a formal diagnosis until adulthood, often following excessive bleeding after a surgical procedure or trauma.

Why is accurate data for Factor XIII deficiency difficult to obtain?

The primary challenge in mapping Factor XIII deficiency is that routine laboratory screening often returns normal results. Specialized assays, such as the clot solubility test or quantitative Factor XIII activity assays, are required to confirm the diagnosis. This diagnostic gap means that current statistics likely represent only the most severe, clinically identified cases, while milder forms of Factor XIII deficiency remain largely undocumented in medical literature.

Next steps

• Consult a hematologist specializing in rare coagulation disorders for specialized Factor XIII activity testing.


• Connect with others by joining the DiseaseMaps.org community to share patient experiences and symptom management strategies.


• Maintain a medical alert bracelet or carry a wallet card detailing your diagnosis for emergency medical providers.

Medical disclaimer: This content is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.

References

• Orphanet: Factor XIII deficiency (ORPHA:323).


• NIH Genetic and Rare Diseases Information Center (GARD): Factor XIII deficiency.


• OMIM (Online Mendelian Inheritance in Man): Factor XIII deficiency (Entry #613225).


• World Federation of Hemophilia (WFH) Guidelines on Rare Bleeding Disorders.