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Hereditary antithrombin deficiency

Hereditary antithrombin deficiency



Hereditary antithrombin deficiency is a rare genetic blood disorder that significantly increases the risk of abnormal blood clots forming in the veins

Symptoms

Deep Vein Thrombosis (DVT): Clots in the deep veins of the legs or arms causing pain, tenderness, swelling, warmth, and red or purple skin color.

Pulmonary Embolism (PE): A dislodged clot traveling to the lungs, causing sudden shortness of breath, rapid breathing, chest pain, or a rapid heart rate.

Unusual Clot Locations: Clots can occasionally form in the veins of the abdomen (mesenteric thrombosis) or the brain (cerebral vein thrombosis), leading to severe abdominal pain or severe headaches

Causes 

SERPINC1 Gene Mutations: This gene gives instructions to make antithrombin, a protein that stops blood from clotting too much.

Type 1 (Quantitative) Deficiency: Caused by nonsense mutations, frameshifts, or large deletions that stop the body from making enough normal antithrombin protein. Both protein levels and activity are low.

Type 2 (Qualitative) Deficiency: Caused by missense mutations that change single amino acids. The body makes normal amounts of the protein, but it does not work correctly. This includes defects at the reactive site (affecting thrombin binding) or the heparin-binding site.

Diagnosis

Antithrombin Activity Assay: This is the primary test. It measures how well your antithrombin stops clotting factors. A result below normal (usually under 70% to 80%) suggests a deficiency.

Antigen Test: If your activity level is low, doctors test the actual amount of antithrombin protein in your blood. This helps classify the specific type of deficiency (Type I or Type II).

Acquired Deficiency Check: Low antithrombin can be temporary due to liver disease, surgery, pregnancy, or certain medications like heparin. Doctors review your medical history to ensure your low levels are inherited and not acquired.

Repeat Testing: Because acute blood clots or active treatments can falsely lower results, doctors often retest your blood after you recover or stop certain medications.

DNA Analysis: Doctors can test your genes for mutations in the SERPINC1 gene. Genetic testing confirms the hereditary form and identifies specific family mutations.

Treatment

Antithrombin Concentrate: Infusions of human Thrombate III or recombinant antithrombin raise protein levels quickly.

Alternative Anticoagulants: Standard heparin requires antithrombin to work, so patients may show heparin resistance. Doctors often use direct thrombin inhibitors like argatroban or dabigatran.

Long-term Blood Thinners: Patients who have experienced a clot usually need oral medications like warfarin.

Pregnancy and Surgery: Pregnant women face a high risk of clots (up to 50%) and receive preventive heparin injections. Antithrombin concentrates are also used during high-risk events like major surgery or childbirth.

Asymptomatic Patients: Individuals who know they have the genetic deficiency but have never had a blood clot generally do not need daily blood thinners, but they require close monitoring during high-risk triggers.

Lifestyle Precautions: Patients should avoid estrogen-containing medications and long periods of physical immobility.

Type of Doctor Department : A hematologist

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