Understanding Thrombophilia: Symptoms, Causes, Treatment & Prevention

The experienced providers at Tampa General Hospital’s Heart & Vascular Institute skillfully treat thrombophilia, a blood disorder that increases a person’s risk of developing blood clots. In some cases, thrombophilia can also make it more difficult for a person’s body to break down old blood clots. Because thrombophilia causes blood to coagulate (transform into a solid) more easily than it normally would, it’s commonly referred to as a hypercoagulable condition.

In general, blood clotting is beneficial, as it helps stop bleeding and promotes healing. However, if blood clots form too easily or persist for too long—as they can with thrombophilia—they can prevent blood from transporting oxygen to the cells that require it. This can lead to serious complications such as deep vein thrombosis (DVT), heart attack, kidney failure, miscarriage, peripheral artery disease (PAD), pulmonary embolism (PE) and stroke. As such, early detection and management of thrombophilia and any resulting blood clots is crucial.

What Are the Types of Thrombophilia?

There are numerous types of thrombophilia, with some being inherited and others being acquired later in life.

Types of Inherited Thrombophilia

When someone is born with thrombophilia, it’s referred to as inherited or genetic thrombophilia. Some of the most common types of inherited thrombophilia include:

Antithrombin deficiency thrombophilia
Factor V Leiden thrombophilia
Protein C deficiency thrombophilia
Protein S deficiency thrombophilia
Protein Z deficiency thrombophilia
Prothrombin thrombophilia

Types of Acquired Thrombophilia

When someone develops thrombophilia during the course of their life—whether due to a related disease, medication or certain lifestyle habits—it’s known as acquired thrombophilia. Someone is more likely to acquire thrombophilia than they are to inherit it. The most common type of acquired thrombophilia is antiphospholipid syndrome, which tends to be the most aggressive type of thrombophilia overall.

What Are the Causes & Risk Factors of Thrombophilia?

As noted above, while certain types of thrombophilia are inherited, others are acquired during a person’s lifetime as a result of another disease, medication or lifestyle habits. Some of the diseases that can lead to the development of thrombophilia include:

Antiphospholipid syndrome
Disseminated intravascular coagulation (DIC)
Hepatitis
Human immunodeficiency virus (HIV)
Liver disease

Certain risk factors can increase a person’s chances of developing thrombophilia. For example, you may have a higher risk of experiencing thrombophilia if you:

Are older
Had at least two blood clots before the age of 40
Are overweight
Are pregnant
Have experienced unexplained miscarriages
Have atherosclerosis, cancer, diabetes, HIV or certain other heart problems
Go long periods of time without moving around
Use tobacco products
Take birth control pills or hormone replacement therapy (HRT) medication containing estrogen
Undergo surgery
Have a family history of blood clots

Notably, having one or more of these risk factors does not necessarily mean that you’ll develop thrombophilia. Some individuals have multiple risk factors and never experience the condition, while others develop the disorder without having any known risk factors.

What Are the Symptoms & Warning Signs of Thrombophilia?

Thrombophilia itself typically doesn’t produce any symptoms. However, if the disorder leads to a blood clot, that clot can produce its own set of symptoms. These symptoms will vary depending on where the clot is located within the body:

Abdomen – If a blood clot forms in the abdomen, it can produce belly pain, nausea and vomiting.
Brain – A blood clot within the brain can lead to seizures, vision impairment, difficulty speaking, weakness on one side of the body and a sudden headache.
Heart – When a blood clot occurs in the heart, it can produce chest pain, shortness of breath, lightheadedness, nausea, sweating and pain within the left arm.
Limbs – If a blood clot enters the arms or legs, it can result in pain, swelling and warmth.
Lungs – A blood clot within the lungs can cause rapid breathing, shortness of breath, pain when breathing deeply, chest pain and an increased heart rate.

When to Seek Emergency Treatment

In some cases blood clots can lead to serious complications. Some of these complications constitute medical emergencies requiring immediate treatment, including:

Deep vein thrombosis – When a blood clot forms in a vein, it can produce throbbing pain, cramping, swelling, warmth, skin redness or darkening and swollen veins that are hard and/or sore to the touch. This condition most commonly affects the veins within the legs.
Heart attack – If blood flow to the heart is significantly reduced or entirely blocked, it can cause chest pain (which may spread to the jaw, teeth, neck, shoulder, back, arm or upper abdomen), shortness of breath, heartburn, indigestion, nausea, cold sweat, fatigue, lightheadedness and dizziness. The pain associated with a heart attack is often described as pressure, tightness or an aching or squeezing sensation.
Pulmonary embolism – When at least one blood vessel in the lungs becomes blocked, it can lead to difficulty breathing, increased heart rate and loss of consciousness.
Stroke – The symptoms of a stroke may include weakness or paralysis on one side of the body, clumsiness, difficulty controlling the muscles on one side of the face, trouble speaking, sudden loss of one or more senses, headache, dizziness, nausea, vomiting, seizures, confusion, memory loss, agitation, personality changes and loss of consciousness.

If you think you might be experiencing any of these complications—or any other potentially life- or limb-threatening condition—be sure to either call 911 or get to a nearby emergency room (ER) as quickly as possible.

Diagnosis & Tests for Thrombophilia

If you’ve developed a blood clot or you think that you might have thrombophilia for some other reason, it’s important to consult with an experienced medical provider as soon as possible. They’ll likely begin by asking you about your personal and family medical histories. They’ll also discuss any symptoms you’ve been experiencing, including when they began, how they’ve changed over time and whether any treatments have provided relief. Your doctor will also perform a thorough physical examination.

If, based on that evaluation, your health care provider suspects that you have thrombophilia, they may order one or more of the following tests to confirm the diagnosis:

Because certain conditions—including liver disease, nephrotic syndrome, pregnancy and certain vitamin deficiencies—can sometimes produce a false positive result, be sure to supply your physician with a thorough accounting of your medical history.

How Do You Treat Thrombophilia?

Treatment for thrombophilia generally focuses on preventing blood clots from forming. To help minimize a patient’s risk of developing a blood clot, a medical provider may recommend wearing compression stockings or taking anticoagulant medication. Commonly referred to as blood thinners, anticoagulants help prevent blood from clotting too easily.

Physicians may also recommend taking anticoagulant medication to treat a blood clot that’s already formed, and in emergency situations, they may prescribe thrombolytic medication. When a blood clot already exists, anticoagulants will stabilize it so that it doesn’t increase in size or move to another location in the body, thereby making it easier for the body to absorb it. Thrombolytics, on the other hand, help dissolve existing blood clots.

What Are the Complications & Long-Term Effects of Thrombophilia?

Thrombophilia can increase someone’s risk of developing:

Deep vein thrombosis
Heart attack
Kidney failure
Miscarriage
Peripheral artery disease
Pulmonary embolism
Stroke

It’s important to note that certain types of thrombophilia are more likely to cause blood clots in pregnant women. So, if you’re either planning to get pregnant or already pregnant, be sure to let your treatment team know that you have thrombophilia so that they can take the necessary steps.

How Do You Prevent & Reduce Your Risk of Thrombophilia?

Although there’s nothing you can do to lower your risk of inheriting thrombophilia, there are certain steps you can take to avoid acquiring this condition. For example, you may want to consider:

Maintaining a healthy weight
Incorporating exercise into your daily routine
Regularly standing up and walking around during long car rides and flights
Using birth control that doesn’t contain estrogen
Avoiding cigarettes and other tobacco products
Undergoing treatment for any medical conditions that can increase your risk of developing thrombophilia
Attending cancer screenings as recommended

If you have to undergo surgery, your treatment team may also administer antithrombin injections or heparin to reduce your risk of developing a blood clot. With your surgeon’s approval, you should also get up and begin walking as soon as possible following surgery.

Living With Thrombophilia

As with any other type of medical condition, one of the best things you can do after being diagnosed with thrombophilia is follow the directions you receive from your treatment team. At Tampa General Hospital, we always provide patients with highly individualized care plans, and we’ll recommend a course of treatment that’s customized to your specific needs and preferences. In addition to adhering to any treatment recommendations, you should attend all follow-up appointments and notify your provider of any new developments related to your condition, treatment regimen or overall health.

With thrombophilia, in particular, it’s important to take steps to lower your risk of cuts and lacerations. Many individuals with this condition are prescribed anticoagulant medication to either prevent blood clots from forming or stabilize existing clots, and while anticoagulants are certainly useful in treating thrombophilia, they can also increase the risk of heavy bleeding from wounds. As such, if you’re taking this type of medication, be sure to exercise extra caution when brushing your teeth, shaving, preparing food, handling sharp objects and performing any other activities that could lead to an injury.

Thrombophilia Frequently Asked Questions (FAQs)

If you have any questions regarding thrombophilia, it’s best to consult with a medical provider who’s experienced in treating this condition. But in the meantime, we’ve compiled answers to some of the questions we most commonly receive about thrombophilia.

What’s the Difference Between Hemophilia & Thrombophilia?

It can be easy to confuse hemophilia and thrombophilia, as they’re both blood disorders that affect clotting. Thrombophilia makes it too easy for blood to clot, thereby increasing a person’s risk of developing dangerous blood clots. Hemophilia, on the other hand, makes it harder for blood to clot, which can lead to large bruises, extended bleeding and bleeding for no apparent reason (e.g., a sudden bloody nose). Tampa General Hospital’s Heart & Vascular Institute offers treatment for both of these conditions.

How Does Thrombophilia Affect Pregnancy?

If you’ve been diagnosed with thrombophilia and you’re either pregnant or planning to get pregnant, you may be concerned about how the disorder will affect your gestation. Certain types of thrombophilia are more likely to cause blood clots in pregnant women, and studies suggest that thrombophilia may increase a pregnant woman’s risk of complications such as fetal growth restriction, miscarriage, preeclampsia and stillbirth. Fortunately, there are steps you can take to increase your chances of having a healthy pregnancy and childbirth, so be sure to let your obstetrician gynecologist (OB-GYN) know of any concerns you have relating to thrombophilia.

What’s the Prognosis for Thrombophilia?

Being diagnosed with thrombophilia can be scary given the potential complications associated with this disorder. However, it’s important to keep in mind that the large majority of individuals with thrombophilia never develop a harmful blood clot. To help minimize your risk of developing a blood clot and experiencing complications, be sure to take any prescribed medications as directed and follow any other care instructions that you receive from your treatment team.

How Long Does Thrombophilia Last?

After being diagnosed with thrombophilia, you may wonder how long you can expect the condition to last. Will it eventually resolve, or will you have to deal with it for the rest of your life? Certain types of thrombophilia—including the inherited types—cannot be cured. However, other types can improve when the underlying condition that led to the thrombophilia is properly treated. Your medical provider can supply you with an answer that’s tailored to the exact type of thrombophilia you have.

The TGH Difference for Thrombophilia

If you’re experiencing any of the thrombophilia symptoms described above, it’s important to promptly consult with a medical provider. Thrombophilia can lead to numerous complications—including deep vein thrombosis, heart attack, kidney failure, miscarriage, peripheral artery disease, pulmonary embolism and stroke —so it’s critical that you receive personalized guidance from someone with experience treating this condition.

The skilled team at Tampa General Hospital offers thrombophilia diagnosis and treatment. The experts at our esteemed Heart & Vascular Institute provide highly individualized care for a wide range of cardiac (heart) and vascular (artery and vein) conditions, including thrombophilia. We take a multidisciplinary approach to care to help ensure that all our patients’ needs are met, with a team that includes board-certified cardiac and vascular surgeons, general cardiologists, interventional cardiologists, heart failure specialists, electrophysiologists, radiologists, specialized cardiac and vascular care nurses and technologists. We’re also proud to collaborate with the University of South Florida on cutting-edge research and to participate in groundbreaking clinical trials.

Tampa General Hospital’s commitment to supplying patients with the best possible care has helped us earn recognition from some of the industry’s top names:

U.S. News & World Report named us One of the Nation's Best Hospitals for Heart & Vascular Care and a High Performing Hospital for Heart Attack and Heart Failure Treatment for 2024-25.
Becker’s Hospital Review included us on its list of 100 Hospitals and Health Systems with Great Heart Programs (in fact, we’re the only hospital in the Tampa Bay region to have received this honor).
Newsweek ranked us as one of America’s Best Specialized Hospitals for Cardiac Care in 2024.

To learn more about Tampa General Hospital’s Heart & Vascular Institute and to schedule an appointment with our team, call us today at (813) 844-3900 or email heart-vascular@tgh.org.