Factor XI deficiency What we need to know

"Factor XI deficiency" is a pathology in which the blood clotting process is disturbed. As a result, people with this disease may not stop the blood flow at all after a tooth extraction, trauma or surgery. Women with "factor XI deficiency" may also experience postpartum hemorrhage.

The main cause of bleeding is the deficiency of factor XI protein, which is involved in blood clotting. This condition is classified as partial or severe depending on the degree of factor XI protein deficiency. Factor XI deficiency syndrome was formerly called hemophilia C to distinguish it from the better-known types of hemophilia A and B. Rarely, factor XI deficiency can be acquired during life. (acquired factor XI deficiency).

Synonyms of factor XI deficiency:

• hemophilia C;
• plasma thromboplastin precursor deficiency;
• PTA deficiency;
• Rosenthal syndrome.

Etiology

genetic disease

Factor XI deficiency is a genetic disorder, which suggests that it is caused by one or more genes malfunctioning. All individuals inherit two copies of most genes. The number of copies of a gene affects the inheritance of a disease.

Symptoms

Signs and symptoms of factor XI deficiency may include:

• hemorrhagic diathesis;
• frequent bleeding from the nose (epistaxis);
• bruises / subcutaneous bleeding;
• bleeding gums;
• Heavy or prolonged menstrual bleeding (menorrhagia);
• prolonged bleeding after childbirth;
• spontaneous bleeding in the urine (hematuria);
• bleeding in the muscles or joints;
• Gastrointestinal bleeding.

Diagnosis

All newborns are screened through a blood test. There are also newer tests that can be used to determine whether the fetus has mutated genes at an early stage of pregnancy through safe testing methods (Veragen (100 monogenic diseases)). Also, if there is a risk of transmitting the disease to the child, couples can consult a specialist before the birth and manage the pregnancy properly.

Online consultation of a geneticist in Synevo – (https://synevo.ge/genetikosis-konsultacia-online/)

Screening tests – A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening. If screening tests show that you or your fetus has a high risk of factor XI deficiency syndrome, it is recommended that you also have a diagnostic test to determine whether the fetus has the genetic disorder.

Diagnostic tests – After the screening test, the final answer is given by a diagnostic test that examines the genetic material of the fetus and therefore can determine whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasity, Veragen) are the only, safe and effective way to confirm the diagnostics.

It should be noted that some other prenatal diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

Treatment

Treatment of factor XI deficiency is not always straightforward, the bleeding tendency is unpredictable and does not correlate with residual enzyme activity as measured by aPTT.

Different treatment options have side effects, therefore the type and duration of treatment is recommended after consultation with the doctor, based on the results of the analysis of laboratory studies.

source

• https://pubmed.ncbi.nlm.nih.gov/20727068/
• https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency/research
• https://rarediseases.org/rare-diseases/factor-xi-deficiency/
• https://www.hemophilia.org/bleeding-disorders-a-z/types/other-factor-deficiencies/factor-xi

Alexander Tsintsabadze