Clotting Disorders

Overview

Blood clotting disorders, or thrombophilia, occur when blood clots form abnormally, leading to complications like stroke or heart attacks. These disorders can be inherited or acquired, with types including haemophilia, deep vein thrombosis (DVT), and pulmonary embolism (PE).

Symptoms range from excessive bleeding to pain, swelling, and breathing difficulties. The treatment options for this condition include blood thinners, anticoagulants, and surgery. However, maintaining a healthy lifestyle, managing underlying conditions, and regular check-ups help in effectively preventing and managing these disorders.

What are Blood Clotting Disorders?

Also called thrombophilia and hypercoagulable state, blood clotting disorder is a problem in the body that leads to the formation of blood clots more often than normal. Blood clots occur after an injury, preventing blood loss and helping the body heal. However, coagulation of blood in the veins or arteries leads to health complications such as heart attack and stroke.

Types of Blood Clotting Disorders

The different types of blood clotting disorders include the following:

• Inherited: The disorder has been passed through parental genes. Changes or mutations in genes make the blood form clots.
• Acquired: An individual is not born with this disease but may have developed it due to some different condition or disease.

Based on the above 2 main types of clotting disorders, the other subtypes include the following:

Haemophilia

It is a genetic disorder that prevents proper blood clotting and passes across generations. Individuals with this disorder notice symptoms such as bruising, excessive bleeding and swelling. The disorder develops due to insufficient blood clotting proteins.

Liver Disease-Associated Bleeding

People with acute or chronic liver failure are at risk of developing this clotting disorder type. These individuals have dysfunctional proteins and extremely low levels of clotting factors because of the impaired synthesis capacity.

Von Willebrand's Disease

It is an inherited disorder that prevents the clotting of blood due to the insufficient presence of a blood clotting protein, which is called the von Willebrand factor. Females are more vulnerable to this condition than males due to excessive bleeding during childbirth or menstruation.

Deep Vein Thrombosis (DVT)

Here, blood clots occur in the deep veins of the pelvis, legs and arms. One may experience symptoms such as pain or swelling of the affected areas. The clots may rip arts and transcend to other body parts, causing stroke, heart attacks or lung diseases.

Pulmonary Embolism (PE)

In this condition, the blood clot develops in a blood vessel of the leg or anywhere around the body. It then bursts and travels to the lung artery, causing artery blockage, organ damage, lung damage and death in severe cases.

Arterial Thrombosis

Here, a blood clot in the arteries obstructs or stops the blood flow to crucial organs including the brain and heart. This occurs due to the build-up of calcium or fats in the artery walls, causing the arteries to burst or cause a blood clot.

Vitamin K Deficiency Bleeding

It occurs due to deficiency of vitamin K in newborn babies, causing them to bleed profusely. Vitamin K deficiencies occur in babies who are born with low vitamin K levels and require supplements for it. This can cause excessive external or internal bleeding.

Antiphospholipid Antibody Syndrome (APLS)

This is an autoimmune disorder which causes the immune system to produce antibodies against certain blood proteins, increasing the chances of clotting. It is a common coagulation disorder in pregnant women and is not inherited.

The following table illustrates information about more clotting types:

Types	Impacts
Factor V Leiden	Abnormal factor V (coagulant protein) production
Prothrombin gene mutation	Overproduction of prothrombin, coagulant protein
Protein C deficiency, protein S deficiency, ATIII deficiency	Insufficient production of protein C, protein S and ATII
Disseminated intravascular coagulation	Abnormal blood clotting in blood vessels

Symptoms of Blood Clotting Disorders

The common symptoms of blood clotting disorders include easy bruising; pain, swelling and tenderness in the legs; heavy bleeding during childbirth or menstruation; prolonged and uncontrollable bleeding even from small bruises; blue, black or deep purple patches on skin with minor cuts; shortness of breath and chest pain; and recurrent nose bleeding. Other symptoms may also include heart attack, stroke, blood in urine or stool, and umbilical stump bleeding in newborns.

The following table helps gain a deeper understanding of blood clotting symptoms in different body parts:

Body parts or organs	Signs or Symptoms
Brain	Seizures, weakness, speech impairment, changes in vision, alterations in sensation in arms, legs, sides of the body and face
Arms or legs	Soreness, swelling, warmth in one spot, abrupt pains
Heart	Chest pains extending to the left arm, passing out, dizziness, nausea, sweating excessively, shortness of breath
Lung	Cough with blood, fever, passing out, dizziness, rapid pulse, sweating, sharp chest aches
Abdomen	Diarrhoea, severe abdominal pain, vomiting, blood in stool or vomit

Causes of Blood Clotting Disorders

Blood clotting disorders develop when blood clotting factors are deficient, or when there is either too many or too less platelets. Clotting can be caused due to inherited or acquired factors. Inherited clotting disorders occur due to elevated factor VIII, IX or XI; protein C, protein S, or antithrombin deficiency; factor V Leiden mutation; and prothrombin gene mutation.

Acquired clotting occurs due to pregnancy, certain cancer types, lack of physical activity, bedridden, HIV, liver disease, vitamin K deficiency, hormone replacement therapy, chemotherapy, drugs, placement of central venous catheter or due to the side effects of some medication.

Risk Factors of Blood Clotting Disorders

Newborns are more at risk for vitamin K deficiency clotting while adults are more prone to developing haemophilia. Other risk factors include family history of clotting disorders, surgery, obesity, infections, liver disease, cancer, autoimmune disease, pregnancy or childbirth, physical inactivity and blood transfusions. Taking medicines such as blood thinners, antibiotics and interferon alfa also increases the risk of developing this condition.

Diagnosis of Blood Clotting Disorders

Diagnosis starts with a physical examination where a doctor checks for any signs or symptoms, and asks about the individual’s family history of the condition. They will conduct certain confirmatory tests if they find anything suspicious during physical examination, which includes a d-dimer test, complete blood count (CBC), clotting factor test, genetic testing, von Willebrand factor test and prothrombin time (PT or PT-INR) and activated partial thromboplastin time (aPTT). A medical professional may also conduct CT scans and ultrasounds to check for blood clots.

Treatment for Blood Clotting Disorders

Blood clotting disorder management and treatments are often recommended when the blood forms clots in arteries or veins. A healthcare professional may prescribe blood thinners, suggesting one to consume by mouth (in the form of aspirin or warfarin) or as shots (through unfractionated or low molecular weight heparin). An alternative to blood thinner medicines may include direct oral anticoagulants (DOACs), which are often used in inherited, low-risk blood clotting disorders.

These include rivaroxaban, apixaban, betrixaban, edoxaban or dabigatran. A doctor may also give fondaparinux as an injection. Side effects of these anticoagulants may include dizziness, heavy bleeding and headaches. In some cases, the clots can be removed through interventional radiology procedures. Other treatment options consist of thrombolytics, transfusion, compression stockings, vena cava filters and surgical thrombectomy. In additions, patients with clotting disorders due to nutrient deficiencies, may be recommended to intake iron and vitamin K supplements.

Prevention of Blood Clotting Disorders

While age and genes cannot be controlled, keeping your weight in check, exercising, consuming a healthy diet (free of sugary or fatty foods, vitamin K-rich food, caffeine and alcohol), taking prescribed medications and managing underlying conditions (cardiovascular diseases or diabetes) can help to rule out blood clotting disorders.

Other preventive measures may include consuming less sodium in diets, wearing loose-fitted clothes, and changing your position or not sitting or standing for more than an hour. You should also ensure that the bottom of the bed is raised 4 to 6 inches with blocks and legs above the heart from time to time.

Myths and Facts Related to Blood Clotting Disorders

The myths and facts related to blood clotting disorders are outlined below:

Myth 1: Blood clots can be cured with medication
Fact: Blood thinners and anticoagulant medications can help reduce the risk of blood clots.

Myth 2: Blood clots may happen due to travelling for a longer time
Fact: Travelling can affect blood flow as long sitting is required. However, blood clots generally occur after surgery or bedridden hospital stays.

Myth 3: Being active does not cause deep vein thrombosis (DVT)
Fact: Anyone can develop blood clots, even physically active individuals. Physical injuries, recent surgeries and dehydration cause the blood to thicken, leading to clotting.