Women have historically been underrepresented in medical research, and rare diseases often receive less scientific attention than common conditions. When those two realities intersect, delayed diagnosis can become the norm. Cardiac amyloidosis is one example, with women frequently identified later than men and often only after being treated for other cardiac conditions.
Beyond Traditional Presentation
When they are finally diagnosed, sometimes after years of questions, women are often in the later stages of progressive heart disease, making the consequences more likely to be life-threatening. Thickening of the cardiac wall – known as hypertrophy – and high, low or erratic blood pressure – known as hypo- or hypertension – are common symptoms that accompany amyloidosis, but also other cardiovascular disorders.
Amyloidosis quietly attacks the body, including the heart, kidneys and nerves. As the organs struggle to perform, women may experience symptoms that impact daily living but are hard to pin down, like fatigue, shortness of breath, lightheadedness, numbness and swelling in the legs. These challenges may be discounted as part of normal aging or incorrectly attributed to another condition.
Education Drives Better Diagnoses
These patients’ best hope for a healthy future is early recognition and treatment of the disorder. Female patients may be misdiagnosed or never tested, as diagnostic criteria designed for men may not reveal the disease until much later. By that time, critical windows for successfully treating or preventing the progression of the disease may have been lost.
Clinicians and patients are encouraged to know the common signs of the disease. Resources are available to help individuals who are concerned about their heart health. An online symptom quiz or diagnostic checklist can provide patients guidance as they talk with their clinicians.
Amyloidosis treatment has evolved significantly in recent years. There are several safe and effective treatments but if patients aren’t diagnosed in a timely manner, they won’t get a chance to experience these benefits.
