Upshaw–Schülman syndrome

Upshaw–Schülman syndrome is a rare, inherited autosomal recessive disorder characterized by a deficiency of the serine protease inhibitor, antithrombin. This syndrome is the only known genetic cause of chronic, relapsing thrombotic thrombocytopenic purpura (TTP), a blood disorder that causes blood clots to form in small blood vessels throughout the body.

Etiology

Upshaw–Schülman syndrome is caused by mutations in the SERPINC1 gene, which provides instructions for making antithrombin. Antithrombin is a protein that helps control blood clotting by blocking the activity of certain proteins that promote clotting. Mutations in the SERPINC1 gene reduce the amount of functional antithrombin in the blood, leading to an increased risk of abnormal blood clotting.

Clinical Presentation

The symptoms of Upshaw–Schülman syndrome typically begin in infancy or early childhood. They can include purpura, thrombocytopenia, hemolytic anemia, and neurological abnormalities such as stroke and seizures. The severity and frequency of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of Upshaw–Schülman syndrome is based on clinical symptoms, family history, and laboratory tests that measure the level of antithrombin in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the SERPINC1 gene.

Treatment

Treatment for Upshaw–Schülman syndrome is aimed at preventing and managing symptoms. This can include plasma exchange therapy to remove antibodies that contribute to TTP, and anticoagulant therapy to prevent blood clots. In severe cases, liver transplantation may be considered, as the liver is the primary site of antithrombin production.

Prognosis

With appropriate treatment, individuals with Upshaw–Schülman syndrome can lead relatively normal lives. However, they must be monitored closely for signs of TTP and other complications.

See Also

• Thrombotic thrombocytopenic purpura
• Antithrombin
• SERPINC1

NIH genetic and rare disease info

• NIH info on Upshaw–Schülman syndrome

Upshaw–Schülman syndrome is a rare disease.

Upshaw–Schülman syndrome Resources
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