There is, in general, a growing appreciation of the relevance of previously dismissed mechanisms of damage in the pathology of common age-related disease, such as cardiovascular conditions. The biggest challenge in aging and age-related disease is perhaps less the identification of relevant mechanisms, but rather understanding the relative importance of those mechanisms. Take transthyretin amyloidosis for example, the accumulation of misfolded transthyretin aggregates that occurs over the course of aging. It is only comparatively recently that the research community has established that this universal process of aging contributes meaningfully to a sizable fraction of heart failure.
Work on treatments for the inherited, accelerated version of transthyretin amyloidosis caused by mutation has produced a drug, tafamidis, that can at least slow the condition, and can also be applied to the vast majority of individuals lacking that mutation. Joining the dots will lead to this treatment being used in heart failure patients with notable amyloidosis. But again, this is all very recent. The lesson to take away from all of this is that improvements in the understanding of even well studied, common age-related conditions are ongoing. Slowly, the mechanisms of aging are being linked to conditions, and that leads to progress towards the development of therapies.
It is important for both the patient and physician communities to have timely access to information recognizing rapid progress in the diagnosis and treatment of familiar but relatively uncommon cardiovascular diseases. Patients with three cardiovascular diseases, i.e. hypertrophic cardiomyopathy, pulmonary arterial hypertension, and transthyretin (TTR) cardiac amyloidosis (ATTR), once considered rare without effective management options and associated with malignant prognosis, have now benefited substantially from the development of a variety of innovative therapeutic strategies. In addition, in each case, enhanced diagnostic testing has expanded the patient population and allowed for more widespread administration of contemporary treatments.
In hypertrophic cardiomyopathy, introduction of implantable defibrillators to prevent sudden death as well as high-benefit:low-risk septal reduction therapies to reverse heart failure have substantially reduced morbidity and disease-related mortality (to 0.5% per year). For pulmonary arterial hypertension, a disease once characterized by a particularly grim prognosis, prospective randomized drug trials with aggressive single (or combined) pharmacotherapy have measurably improved survival and quality of life for many patients. In cardiac amyloidosis, development of disease-specific drugs can for the first time reduce morbidity and mortality, prominently with breakthrough ATTR-protein-stabilizing tafamidis.
In conclusion, in less common and visible cardiovascular diseases, it is crucial to recognize substantial progress and achievement, given that penetration of such information into clinical practice and the patient community can be inconsistent. Diseases such as hypertrophic cardiomyopathy, pulmonary arterial hypertension, and ATTR cardiac amyloidosis, once linked to a uniformly adverse prognosis, are now associated with the opportunity for patients to experience satisfactory quality of life and extended longevity.