Scott syndrome

Autosomal recessive - en

Scott syndrome is a rare inherited bleeding disorder characterized by a defect in the ability of platelets to promote blood clotting. This condition is named after the first reported patient, who was identified in the 1970s.

Pathophysiology

In individuals with Scott syndrome, the platelets fail to externalize phosphatidylserine on their surface in response to activation. This externalization is crucial for the assembly of the prothrombinase complex, which is necessary for the conversion of prothrombin to thrombin, a key step in the coagulation cascade. The defect in Scott syndrome is typically due to mutations in the ANO6 gene, which encodes the protein anoctamin-6.

Clinical Features

Patients with Scott syndrome often present with mild to moderate bleeding tendencies. Common symptoms include:

• Easy bruising
• Prolonged bleeding from minor cuts
• Excessive bleeding after surgery or trauma
• Menorrhagia in women

Diagnosis

The diagnosis of Scott syndrome is based on clinical evaluation, family history, and specialized laboratory tests. These tests may include:

• Platelet function tests
• Flow cytometry to assess phosphatidylserine exposure
• Genetic testing for mutations in the ANO6 gene

Management

There is no cure for Scott syndrome, and treatment is primarily supportive. Management strategies may include:

• Avoidance of medications that can exacerbate bleeding
• Use of antifibrinolytic agents
• Platelet transfusions in cases of severe bleeding
• Hormonal therapy for menorrhagia

Prognosis

The prognosis for individuals with Scott syndrome is generally good, with most patients experiencing mild to moderate bleeding episodes that can be managed with appropriate medical care.

Related Pages

• Bleeding disorder
• Platelet
• Coagulation
• Prothrombinase complex
• Thrombin
• Phosphatidylserine
• ANO6

See Also

• Hemophilia
• Von Willebrand disease
• Glanzmann's thrombasthenia

References

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