A condition that can cause potentially fatal blood clots is frequently misdiagnosed or overlooked by general practitioners, according to medical experts, leaving patients at risk. Antiphospholipid syndrome (APS), also known as Hughes syndrome, is an immune system disorder that causes blood to become abnormally sticky, increasing the likelihood of dangerous clotting and pregnancy complications.
Sarah Bassra, 36, experienced symptoms for two months before collapsing and being diagnosed. Initially, her swollen and painful toes, ankle, and leg were attributed to an ankle injury, an allergic reaction to nail polish, or plantar fasciitis. She was advised to wear supportive shoes and sent home without blood tests. Her symptoms worsened, with the pain spreading up her calf and thigh.
Emergency Diagnosis
The situation escalated 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 clot in a deep leg vein, and a pulmonary embolism (PE), a life-threatening blockage in her lung caused by the clot traveling from her leg. She spent five days in the hospital and began treatment with blood thinners.
Months later, Bassra received a diagnosis of antiphospholipid syndrome, the underlying cause of her clots. APS is estimated to affect around 35,000 people in Britain, with a higher prevalence in women aged 20 to 50. Many individuals remain asymptomatic until a clot or pregnancy complication occurs.
Experts emphasize that early signs of a blood clot, such as swelling, pain, tenderness, warmth, or redness in an arm or leg, are often dismissed by GPs, particularly in younger patients. If a clot moves to the lungs, symptoms can include sudden shortness of breath, sharp chest pain, rapid or irregular heartbeat, and coughing up blood, signifying a medical emergency.
Overlooked Symptoms and Delayed Diagnosis
Research indicates that APS is a contributing factor in a significant number of strokes, DVTs, and heart attacks among individuals under 50. A 2023 study found that nearly 15% of APS patients faced delayed or incorrect diagnoses, with diagnostic journeys often exceeding seven years. Professor Beverley Hunt, an APS expert, noted that medical professionals may overlook clots because they are not presenting in the classic textbook manner. She stated that about 80% of DVTs do not manifest as a severely swollen leg, leading to patients being misdiagnosed until the clot reaches their lungs.
Factors such as family history, poor diet, lack of exercise, and smoking can increase the risk of developing APS. Certain medications, including the combined contraceptive pill, can also trigger the condition in susceptible individuals. For pregnant individuals, unmanaged APS can lead to serious complications, including miscarriages and stillbirths.
Long-Term Management and Patient Advocacy
Early diagnosis allows for effective management with daily blood-thinning medication. Bassra, who now faces lifelong treatment with blood thinners, described the challenging side effects, including hair loss and heavier periods. She also experienced shortness of breath due to lung damage, which took approximately three years to resolve. Her experience has led her to advocate for patients to seek second opinions when they feel their symptoms are not being adequately addressed. She highlighted the misconception that blood clots primarily affect older individuals, noting her diagnosis in her early thirties. Bassra believes an earlier diagnosis could have prevented the spread of the clot and the resulting permanent damage.
Professor Hunt advises that unexplained leg pain, new swelling or color changes in the foot or ankle, and chest pain should always be taken seriously, as these subtle symptoms can be the earliest indicators of a developing clot.