6 Signs and Symptoms of Thrombophilia

Thrombophilia are disorders that increase the risk of developing blood clots. A clotting disorder called thrombophilia may be hereditary or gained. Find out what thrombophilia symptoms to look out for!

What is thrombosis?

Thrombosis refers to the formation of a blood clot in a blood vessel. The blood clot either completely or partially blocks the flow of blood through the blood vessel. A blood clot can be in a vein or an artery. The symptoms that occur with a blood clot depend on.

• Where the clot occurs
• The size of the clot
• Whether the clot breaks off and travels to another part of the body

When a clot breaks off and travels, this is known as embolization. For example, a blood clot in the leg can break off and travel to the lungs (pulmonary embolism) or travel to the brain (embolic stroke).

Clots in the veins mainly occur in the arms and legs, but they can also occur in the veins of internal organs such as the liver, spleen, or intestines. The most common types of clots in the veins are deep vein thrombosis and pulmonary embolism. Clots in the arteries can also affect a variety of organs, including the brain (stroke), heart (myocardial infarction), or intestines (abdominal angina).

What is thrombophilia?

Thrombophilia is a term used to describe a group of conditions in which there is an increased tendency to develop a blood clot. These conditions may be inherited (part of our genes and present at birth) or gained (the result of other triggers such as obesity, illness, medications, injury, or pregnancy, etc.).

Identifying an underlying clotting condition has important implications for your life and medical care.

Thrombophilia Signs and Symptoms

Symptoms of thrombophilia are;

• throbbing or cramping pain in 1 leg (rarely both legs), usually in the calf or thigh.
• swelling in 1 leg (rarely both legs)
• warm skin around the painful area.
• red or darkened skin around the painful area.
• swollen veins that are hard or sore when you touch them.
• repeated miscarriage

1. Pregnancy Loss

Repeated pregnancy loss and miscarriage may be signs of a clotting disorder (thrombophilia), especially in women with:

• Factor V Leiden mutation
• Prothrombin gene mutation
• Antiphospholipid syndrome or lupus anticoagulants
• Deficiencies of protein C
• Deficiencies of protein S
• Deficiencies of antithrombin

Pregnancy loss and recurrent miscarriage may be because of excessive or abnormal clotting in the small blood vessels of the placenta.

2. Symptoms of Inherited Deficiencies 

Most patients with an inherited or gained clotting disorder may not have symptoms for a significant period. These patients are normally diagnosed because of a personal or family history of a blood clot. Some common signs of inherited clotting disorders include:

• Clots in the mesenteric vein
• Family history of blood clots
• First clot at a young age, often younger than 40 years old
• Frequent recurrence
• Neonatal purpura fulminans

3. Symptoms of Superficial Thrombophlebitis

These clots often partially block blood flow in affected veins and may cause pain and irritation. The affected area is hard, red, and often visible. Symptoms can interfere with sleep.

Superficial thrombophlebitis most commonly occurs in the legs or arms. Symptoms of superficial thrombophlebitis include:

• Redness and inflammation along the vein
• Throbbing or burning pain along the vein or just beneath the surface of the skin
• Fever, which may develop as a sign of inflammation

4. Symptoms of Hyperhomocysteinemia

Clinical signs of hyper-homocysteinemia are like those seen with other clotting disorders. Reported rates of clotting events in cases of significant hyper-homocysteinemia include:

• Deep vein thrombosis (with or without pulmonary embolism): ~64%
• Superficial thrombophlebitis: ~24%
• Thrombosis of cerebral or intestinal veins: ~12%

Clotting signs and symptoms are often associated with other “triggering” factors, such as the use of oral contraception, trauma or surgery, pregnancy (both during and after), and immobilization.

5. Symptoms of Deep Vein Thrombosis

Patients with deep vein thrombosis often exhibit some of the following conditions:

• Swelling, usually in one leg
• Leg pain or tenderness
• Reddish or bluish skin discolouration
• Leg warm to touch

Keep in mind, some people with deep vein thrombosis may not have any symptoms. These people are known as asymptomatic, and it’s difficult to diagnose a clotting condition until after a clotting episode has occurred.

6. Symptoms of Pulmonary Embolism

The signs and symptoms of pulmonary embolism may be subtle and may include the following complaints, listed in order of frequency:

• Sudden shortness of breath
• Sharp chest pains (may get worse with deep breaths)
• Rapid heart rate
• Unexplained cough, sometimes with bloody mucus
• Apprehension or anxiety
• Sweating
• Feeling faint
• Tiredness

Some people with a pulmonary embolism may not have any symptoms, and it’s hard to diagnose until after a clotting event has occurred.

Thrombophilia Testing

Diagnosing deep vein thrombosis and pulmonary embolism may be difficult, as the signs and symptoms associated with these disorders are not unique to these conditions. For example, leg pain and swelling or chest pain and shortness of breath may have other causes. As a result, thrombophilia testing is needed to confirm the diagnosis.

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1. D-Dimer Test

Using D dimer assays to rule out a blood clot is controversial. The accuracy of the D-dimer test depends on the patient setting. The D-dimer test is accurate in an outpatient setting, but in hospitalized patients, the accuracy of the elevated D-dimer result may reflect clots or medical conditions other than pulmonary embolism that leads to an increase in D-dimer concentration.

D-dimer levels may predict the chance that a clot will recur once administration of oral blood thinners has been stopped (a recurrence of a clot is less likely if normal D-dimer levels are achieved one month after stopping oral blood thinners).

This is true for people who experience unprovoked blood clots, regardless of whether they are carriers of a form of an inherited clotting disorder.

2. Antiphospholipid Antibody Test

Patients with the antiphospholipid syndrome should have at least one clinical and one persistent laboratory finding documented to confirm that they have antiphospholipid syndrome. The antiphospholipid antibody test should be positive on at least two occasions greater than eight weeks apart for a definitive diagnosis.

Often, antiphospholipid syndrome may be diagnosed in people with an autoimmune disorder such as systemic lupus erythematosus. Antiphospholipid syndrome can also occur in people without systemic disease. This latter group of patients is referred to as having a primary antiphospholipid-protein syndrome.

In some patients, primary antiphospholipid-protein syndrome may progress to systemic lupus erythematosus. The antiphospholipid syndrome may also be induced by drugs or cancer.

3. Heparin-Induced Thrombocytopenia

The diagnosis of suspected heparin-induced thrombocytopenia should be based on a clinical assessment made by a medical care provider experienced with this condition, along with various specialized laboratory tests. If heparin-induced thrombocytopenia is confirmed, administration of all forms of heparin must be stopped. This includes the removal of heparin-coated catheters and the discontinuation of all heparin flushes of catheters.

4. Radioactive Fibrinogen Leg Scanning

Radioactive fibrinogen leg scanning is moderately sensitive and specific for clots in the calf and popliteal veins, but less sensitive for superficial clots in the femoral or iliac veins.

The AcuTect venogram test is a synthetic radiochemical that binds to a protein found on activated platelets. A venogram can diagnose patients with signs and symptoms of a clot in the veins. The AcuTect appears to detect acute, but not chronic, clots in the veins.

5. Doppler Test

The Doppler-augmented ultrasound and impedance plethysmography technique are sensitive to proximal clots that cause blockages. Impedance plethysmography does not detect calf vein clots or proximal vein clots that do not block the blood vessel.

Doppler ultrasonography is the most widely available noninvasive test for deep vein thrombosis. Doppler ultrasonography has become the dominant test since the 1980s and has largely replaced impedance plethysmography for noninvasive testing.

6. X-Ray

Venography testing can detect clots in both calf and proximal veins.

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Originally Published in: IHTC

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