A potentially life-threatening condition, antiphospholipid syndrome (APS), which causes the blood to become too sticky and prone to clotting, led to severe health complications for Sarah Bassra, a 36-year-old from Nottingham. Her initial symptoms, including leg swelling and pain, were misdiagnosed as common ailments like plantar fasciitis and an ankle injury, underscoring a broader issue of diagnostic delays for the rare disorder.
Bassra's ordeal began in June 2022 with red, hot toes, which soon progressed to a swollen and inflamed ankle. Despite two visits to her general practitioner (GP), she received differing explanations, first being told it might be a reaction to gel nail polish, and later that it was likely plantar fasciitis. She was advised to wear orthopaedic trainers and sent home without further tests. The pain continued to spread up her calf and thigh, which she attributed to overexertion or compensating for the initial discomfort.
The situation escalated dramatically when Bassra experienced chest pains and difficulty breathing at a music festival. She collapsed and was taken to A&E, where tests revealed she had deep vein thrombosis (DVT), a blood clot in a deep leg vein, and a pulmonary embolism, a dangerous blockage in her lung caused by the clot traveling from her leg. She spent five days in the hospital and was placed on blood thinners.
Months later, APS, also known as Hughes syndrome, was identified as the underlying cause of her blood clots. This immune system disorder significantly increases the risk of dangerous blood clots and complications during pregnancy, such as recurrent miscarriages. Experts estimate APS affects around 35,000 people in Britain, predominantly women aged 20 to 50. Many individuals remain asymptomatic until a clot or pregnancy complication occurs.
Professor Beverley Hunt, an APS expert and trustee of Thrombosis UK, noted that medical professionals often miss clots because they are looking for textbook symptoms that are not always present. Approximately 80% of DVTs do not present as a significantly swollen leg, leading to delays in diagnosis for those with subtle symptoms like unexplained leg pain or swollen ankles and toes. Research indicates that a significant percentage of APS patients face late or incorrect diagnoses, often waiting over seven years for the correct diagnosis.
Early signs of a blood clot can include swelling, pain, tenderness, warmth, or redness in an affected limb. If a clot travels to the lungs, it constitutes a medical emergency with symptoms like sudden shortness of breath, sharp chest pain that worsens with breathing, rapid or irregular heartbeat, and coughing up blood.
While the exact cause of APS is not fully understood, it can be hereditary. Lifestyle factors such as poor diet, lack of exercise, and smoking may increase the risk. Certain medications, including combined contraceptive pills, can also trigger the condition in susceptible individuals. Left unmanaged, APS can lead to complications in pregnancy by restricting blood flow to the placenta.
Early diagnosis and management, typically involving daily blood-thinning medication or injections during pregnancy, can effectively control the condition. Bassra, who now faces lifelong blood thinner treatment with side effects including hair loss and heavier periods, expressed gratitude for the eventual diagnosis, stating that her collapse forced the issue. She believes a simple blood test could have identified the clot earlier, preventing its progression to her lungs and permanent damage.
Experts emphasize that unexplained leg pain, new swelling or color changes in the foot or ankle, and chest pain should always be taken seriously, as they can be early indicators of a forming clot. Bassra's experience highlights the importance of seeking second opinions when symptoms are dismissed and underscores that blood clots can affect individuals of all ages, not just the elderly. 
