What to know about coagulation disorders

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Coagulation disorders are when the body has issues controlling blood clots. Coagulation refers to the process of forming blood clots — our bodies rely on this vital process to help prevent excessive bleeding from an injured blood vessel.

Platelets are cell fragments present in the blood that help with the blood-clotting process by gathering at the site of an injury. They combine with proteins in blood plasma to form a blood clot and prevent leakage from the injury. This makes coagulation an important natural defense against injury. However, some people experience coagulation disorders that can result in too much or too little clotting.

Bleeding disorders are where the body is unable to form blood clots properly. These conditions are typically due to issues with blood clotting factors, which are proteins that help blood clots form. This can result in excessive bleeding from not forming enough clots or blockages from producing too much.

Examples of bleeding disorders where the body does not form enough blood clots include hemophilia and von Willebrand’s disease. Hypercoagulability describes excessive blood clotting, which can disrupt blood flow and increase the risk of problems that include deep vein thrombosis or pulmonary embolism.

People can either inherit or acquire coagulation disorders. This means individuals can get the condition from their parents or develop one during their lifetime, often from another condition or a medicine affecting blood clotting factors.

There are many types of coagulation disorders, including the below.

• Hemophilia: A genetic disorder that passes through families and prevents proper blood clotting. It causes excessive bleeding, swelling, and bruising. The most common types are hemophilia A and B, where the body lacks certain proteins in the blood for clotting.
• von Willebrand’s disease: Another genetic disorder that prevents clotting due to insufficient von Willebrand factor, a blood-clotting protein. Females are more likely to notice the condition than males due to heavy or bleeding that characterizes the condition during menstrual periods or birth.
• Liver disease-associated bleeding: People with liver disease can experience scarring that increases the risk of bleeding disorders or thrombosis.
• Vitamin K deficiency bleeding: The body requires vitamin K to form blood clots. Babies born with low vitamin K levels who do receive supplements may develop vitamin K deficiencies, which can lead to excessive internal or external bleeding.

In rare cases, some people lack other clotting factors that may cause excessive bleeding, such as factors I, II, or V. Some individuals may also experience platelet disorders, which are rare conditions where the body produces too many, too few, or dysfunctional platelets.

People in hypercoagulable states are at risk of venous thromboembolism. This disorder causes blood clots to form in a deep vein that can break away and enter the lungs. In rare cases, individuals in hypercoagulable states could experience a blood clot that causes a heart attack or stroke.

People with bleeding disorders can experience symptoms that include:

• excessive bleeding that does not stop with pressure
• easy bruising
• blood in urine or stool
• heavy bleeding during menstruation or after childbirth
• bleeding under the skin
• redness and swelling around the body
• umbilical stump bleeding in newborns

Some causes can also lead to additional symptoms. For example, liver disease can cause tiredness, weakness, and a loss of appetite.

Additionally, people in hypercoagulable states could experience symptoms depending on the presence and location of a blood clot. For example, a blood clot near the heart or lungs could cause chest pain, shortness of breath, or discomfort around the upper body. These symptoms could indicate a heart attack or pulmonary embolism.

Symptoms of deep vein thrombosis typically include pain, swelling, and skin discoloring around the area of the blood clot, such as in the legs.

Genetics can cause many types of coagulation disorders. People inherit these genetic changes from their biological parents, or they acquire them after birth. Genes provide instructions for how the body makes blood clots — some genetic mutations cause the body to make errors when forming blood clots, which can lead to a disorder.

For example, hemophilia is a condition that people usually inherit from a parent. It is due to a mutation on the X chromosome that affects clotting factors VIII or IX. Males typically possess one X chromosome and one Y chromosome, while females often have two X chromosomes. Due to only having one copy of an X chromosome, males are more likely to develop hemophilia.

Most people with von Willebrand’s disease inherit a genetic mutation that affects the production of von Willebrand factor. In rare cases, the mutation can occur spontaneously or due to another medical problem without a family history of the condition.

The cause of coagulation disorder is not always clear. For example, vitamin K deficiency bleeding could be due to babies who do not receive a vitamin K shot at birth, have liver or digestive diseases, or have a biological parent who uses certain medications, such as isoniazid.

Some risk factors for coagulation disorders can include:

• age, such as newborns for vitamin K deficiency or older adults in hemophilia A
• a family history of the condition
• being male
• other medical conditions, such as cancer, autoimmune diseases, or liver disease
• blood transfusions
• obesity
• infections
• medications, such as antibiotics, blood thinners, or interferon alfa
• surgery
• hormone-based medications, such as birth control pills
• pregnancy and giving birth
• physical inactivity and sitting for long periods
• medical devices that increase blood flow

Doctors will ask about symptoms and check a person’s medical history to diagnose coagulation disorders. They will also ask about family members with any coagulation disorders, which could suggest inheritance of the same condition. A physical examination will also help identify visible symptoms, such as bruising and swelling.

If the doctor suspects a coagulation disorder, they will order additional tests to confirm the diagnosis. These could include:

• a D-dimer test, which tests for venous thromboembolism
• complete blood count
• a partial thromboplastin or prothrombin time test, which measure how long it takes for a blood clot to form
• clotting factor tests to identify any missing clotting factors
• von Willebrand factor tests
• genetic testing to identify genes that can cause coagulation disorders
• medical scans, such as ultrasounds or CT scans, to check for blood clots

The best treatment approach will depend on the type of coagulation disorder, its severity, and the person’s overall health. Treatments typically aim to manage symptoms and reduce the risk of complications. Doctors might recommend one or more medications, including:

• anti-fibrinolytic drugs to treat bleeding after childbirth or surgeries
• birth control pills to reduce menstrual bleeding
• desmopressin
• immunosuppressive medicines
• vitamin K supplements
• blood thinners to reduce the risk of clotting in people with hypercoagulable states
• thrombin inhibitors or thrombolytics

Doctors may also recommend other treatments, such as factor replacement therapy. This involves replacing missing clotting factors using blood donations or replacements from a laboratory.

People who experience a blood clot may need emergency care. A catheter-assisted thrombus removal involves a doctor using a flexible tube to break up blood clots — they might insert vena cava filters into deep veins to catch blood clots before they travel to the lungs or heart.

It is essential to consult with a doctor about a coagulation disorder. The consequences of forming too few or too many blood clots can become life threatening without treatment.

Some coagulation disorders are present at birth, and a doctor might identify the problem right away. However, healthcare professionals will only screen for a coagulation disorder if there are certain risk factors, such as a biological parent with hemophilia.

It is vital to look out for symptoms and consult with a doctor immediately if there are signs of a coagulation disorder. For example, excessive bleeding, swelling, and easy bruising are all signs of a bleeding disorder.

Venous thromboembolism can also quickly become life threatening. Therefore, it is important for people to contact a doctor immediately if they notice warning signs, such as swelling, pain, and tenderness in the legs.

Coagulation disorders affect the body’s ability to form blood clots — they either cause too few or too many blood clots, both of which can have severe consequences. Some coagulation disorders are genetic and can pass down through families. However, people can also acquire them during their lifetime from certain medications or conditions.

Anyone showing signs of a coagulation disorder should contact a doctor right away. Treatments will typically include one or more medications to manage the condition, while some people may need additional treatments, such as factor replacement.