Inherited factor XI deficiency: a concise review

Area of Science:

• Hematology
• Genetics
• Rare Diseases

Background:

• Inherited Factor XI (FXI) deficiency, also known as Hemophilia C, is an uncommon autosomal recessive bleeding disorder.
• It is characterized by a variable tendency for bleeding, typically appearing after trauma or surgical procedures.

Purpose of the Study:

• To provide a comprehensive review of the current knowledge on inherited Factor XI (FXI) deficiency.
• To cover the pathogenesis, genetics, diagnosis, clinical manifestations, and management of this rare bleeding disorder.

Main Methods:

• Literature review of existing studies and clinical reports on Factor XI deficiency.
• Synthesis of information regarding the molecular basis, inheritance patterns, diagnostic criteria, clinical presentation, and therapeutic options.

Main Results:

• Factor XI deficiency is a rare autosomal recessive disorder with diverse bleeding phenotypes.
• Understanding the genetic basis and clinical spectrum is crucial for accurate diagnosis and effective management.
• Current management strategies focus on supportive care and factor replacement when necessary.

Conclusions:

• Inherited Factor XI deficiency requires a multidisciplinary approach for optimal patient care.
• Further research into the pathogenesis and treatment of FXI deficiency is warranted.
• This review consolidates essential information for clinicians managing patients with Hemophilia C.