Rosenthal syndrome
A mild bleeding disorder from factor XI deficiency, common in Ashkenazi Jews.
Rosenthal syndrome, also called haemophilia C or plasma thromboplastin antecedent (PTA) deficiency, is a mild form of haemophilia that affects both sexes. It is caused by a deficiency of factor XI and occurs predominantly in Ashkenazi Jews. It is the fourth most common inborn bleeding disorder after von Willebrand's disease and haemophilia A and B.
Quick Facts
- Field
- Haematology
- Symptoms
- Oral bleeding
- Causes
- Deficiency of coagulation factor XI
- Diagnosis
- Prothrombin time
- Prevention
- Physical activity precautions
- Treatment
- tranexamic acid
Facts from the source article.
Cause
Haemophilia C is caused by a shortage of factor XI, a protein that helps maintain blood clots and prevent their breakdown. Unlike haemophilia A or B, it does not cause joint bleeding. The condition follows autosomal recessive inheritance, though it is not fully recessive—people with one copy of the faulty gene also tend to bleed more. The factor XI gene sits on chromosome 4, near the prekallikrein gene. Many different mutations exist, and the amount of bleeding does not always match the severity of the deficiency. Haemophilia C sometimes appears in people with systemic lupus erythematosus due to inhibitors that target the factor XI protein.
Diagnosis
Diagnosis centers on a prolonged activated partial thromboplastin time (aPTT), with decreased factor XI levels in the body. Differential diagnosis includes haemophilia A, haemophilia B, lupus anticoagulant, and heparin contamination. The prolongation of aPTT should completely correct with a 1:1 mixing study with normal plasma if haemophilia C is present; if a lupus anticoagulant is the cause, the aPTT will not correct with such a mixing study.
Treatment
Treatment is usually unnecessary except in relation to operations, leading many with the condition to be unaware of it. Tranexamic acid is often used for bleeding incidents and as a preventive measure during oral surgery. When needed, fresh frozen plasma or recombinant factor XI may be used. Nosebleeds may occur, and females can experience unusual menstrual bleeding, which can be managed with birth control such as IUDs and oral or injected contraceptives to increase coagulation ability by adjusting hormones to levels similar to pregnancy.
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