Blood clots, often silent yet potentially deadly, pose a significant challenge in medicine. All too frequently, insidious clots go unnoticed or are misdiagnosed, leading to severe complications and even death. In this blog post, we’ll explore the common pitfalls in identifying blood clots and the emerging role that genetic testing for clotting disorders may play in identifying risk factors, filling diagnostic gaps, and saving lives.
Vague Symptoms, Mimicked Ailments
Adept at concealing their presence, blood clots are known for symptoms – when they do occur – that can be subtle or easily attributed to other conditions. The result is a concerning trend of missed or delayed diagnoses, leaving individuals vulnerable to the serious consequences of untreated blood clots.
BLOOD CLOT SIGNS AND SYMPTOMS
Blood clot in the arm or leg: Pain, swelling, red or discolored skin, and the skin may be warm to the touch.
Blood clot in the lung: Chest pain, difficulty breathing, coughing or coughing up blood, faster than normal heart rate.
WHEN SYMPTOMS DO NOT OCCUR
Up to 30% of people with a blood clot in their leg will not experience any symptoms. In about 25% of people who experience a blood clot in their lung their first symptom is sudden death. These statistics make identification of risk factors all the more important.
Personal Perspectives
The symptoms of blood clots are frequently nonspecific, mimicking other common conditions. Shortness of breath and mild chest pain, or the symptoms of a pulmonary embolism (PE) or blood clot in a person’s lung, may be brushed off as signs of asthma or anxiety, for example. Leg swelling and pain, indicative of deep vein thrombosis (DVT) or a blood clot in a person’s leg or arm, can be mistaken for muscle strain or arthritis.
Diana de Almeida, blood clot survivor
“I was young, healthy, and athletic when I experienced a blood clot,” says Diana de Almeida, who recently survived a massive bilateral PE at the age of 32. “I went for help as soon as the symptoms started. I was feeling short of breath and had chest pain. All of my tests looked perfect, and the doctors simply dismissed my symptoms as anxiety.
“The pain grew more severe over the weeks that followed and in despair I went to the hospital again. Thankfully, one of the doctors finally suspected that my symptoms might be caused by a blood clot and I was finally diagnosed with a massive bilateral PE and treated. But, it took almost two months for a diagnosis and in that time I was in unbearable pain as the clotting spread throughout my lungs. My doctors all agree that I’m tremendously lucky to have survived.”
Given Diana’s experience, and similar experiences by many others like her, a challenge clearly lies in recognizing these seemingly benign symptoms as potential indicators of a more serious underlying issue.
Underestimating Risks
A broad spectrum of individuals are affected by blood clots, and the risk is not always immediately apparent. Most blood clots occur in individuals aged 60 or older. In addition, surgery and hospitalization account for almost half of all blood clot diagnoses each year. An overreliance on these leading risk factors can cause the occurrence of blood clot symptoms in younger, seemingly healthy individuals to be overlooked or dismissed as something else. This underestimation of risk contributes to missed diagnoses, as healthcare providers may not prioritize blood clot risk assessments in certain populations.
In women’s health, there exists a continuum of blood clot risks that span several stages of a woman’s life, including the risks tied to combined hormonal contraception (including the pill, patch, and ring), pregnancy and childbirth, and the treatment of menopause symptoms with estrogen later in life.
“I had been off the pill for some time, but had just started using it again within two months of experiencing my clot,” Diana says. “My doctors suspect that I have an underlying clotting disorder, which they’re trying to identify specifically, and that my use of hormonal contraception magnified my clotting risk and triggered my PE.”
Diana’s experience is not uncommon, and many women who experience a life-threatening blood clot while using combined hormonal contraception later learn that they have an underlying clotting condition. Sadly, this is also often the case for many of the women who have lost their life to blood clots after taking hormonal birth control. It is estimated that up to 1,000 women in the United States lose their life each year to blood clots linked to the use of estrogen-based contraception.
Genetic Testing
The question that emerges from experiences like this is crucial: Can we reduce the incidence of life-threatening blood clots and save lives by evaluating whether or not a woman has an underlying clotting condition before she potentially faces the continuum of clotting risks in her lifetime?
Genetic testing has not been advised, for example, prior to starting contraception due to cost effectiveness, but the risk of clotting among women with genetic clotting disorders increases 62-fold during their first year using combined hormonal contraception. (Martinelli et al. 2016)
However, while it may not be effective to screen all women universally, some research has suggested that selective genetic testing is more cost effective and may provide important guidance about contraceptive choice among women who are first-degree relatives of individuals with a history of clotting or a known inherited clotting disorder. (Wu et al. 2005)
More recently, research involving a patient-centered review of the issues that surround the matter of genetic testing relative to hormonal contraceptive use advocates for an increase in patient-centered care and improved education about thrombophilia screening among physicians and patients. This study, Re-Examining Genetic Screening and Oral Contraception: A Patient-Centered Review, also recommends that women be offered the option of thrombophilia screening before they begin hormonal birth control.
Personalized Risk Assessment
The role for genetic testing is proving invaluable on assorted clinical fronts. Its emerging role relative to genetic clotting disorders or thrombophilia, particularly if it can improve risk recognition and help healthcare providers more rapidly recognize symptoms and save lives, could be tremendous.
Integrating genetic information into the diagnostic process allows for a more personalized risk assessment. Rather than relying solely on age, lifestyle, or known medical history, healthcare professionals can factor in genetic predispositions to tailor their approach. This personalized risk assessment enhances the accuracy of identifying individuals at higher risk, enabling targeted interventions and vigilant monitoring.
Genetic testing extends beyond individual diagnoses, as it opens avenues for family screening. If one family member is diagnosed with a genetic clotting disorder, testing other relatives can reveal shared genetic predispositions. This proactive approach facilitates early intervention, reducing the risk of clot-related complications among family members.
A Holistic Approach to Blood Clot Diagnoses
The frequent misdiagnosis of blood clots underscores the need for a more nuanced and comprehensive diagnostic approach. By merging traditional diagnostic methods with the power of genetic testing, healthcare professionals can bridge the gaps in recognizing blood clots, which may lead to earlier interventions, improved outcomes, and lives saved.
Genetic testing not only sheds light on the genetic underpinnings of clotting disorders but also enables a personalized and proactive approach to managing blood clot risk. As the landscape of modern medicine evolves, the integration of genetic testing stands out as a beacon of hope in the pursuit of blood clot prevention and more accurate, timely, and individualized blood clot diagnoses.
