Cardiac amyloidosis in India: Seek and you will find

“What the eye doesn’t see and the mind doesn’t know, doesn’t exist” D H Lawrence Cardiac amyloidosis (CA) is a broad-spectrum systemic disorder resulting from deposition of misfolded proteins or amyloid fibril aggregates in the myocardium. Light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR) are the most common subtypes. ATTR-CA can be hereditary or wild type. AL amyloidosis is considered to be a hematological emergency. Patients with CA typically exhibit congestive heart failure with preserved ejection fraction (HFpEF).[1] Approximately 25% of patients with heart failure (HF) present with HFpEF. The prevalence of ATTR-CM is around 7%–13% of patients with HFpEF.[1] Patients with HFpEF may represent an enriched population for CA.[1] Epidemiological data in India are not known.[2] The data from India on CA are limited, and the present paper by Vivek et al.[3] adds to the existing knowledge. Like many publications from India, it shows a preponderance of AL type (73.9%). This may be due to selection bias based on referral patterns in tertiary hospitals. In India, endomyocardial biopsy is seldom done. Bone scintigraphy, highly specific for ATTR-CA, even though inexpensive, is often unavailable and underutilized. In a study of cardiac amyloidosis by Jain et al.[4] bone scintigraphy was used as part of the diagnostic process in 31 patients and of them, 41.9% of patients had ATTR-CA. Dr. J. C. Mohan, in his presentation at the HFAI Annual Conference 2022, estimated the least number of ATTR-CA in India to be 190,000 based on the prevalence of HF with reduced ejection fraction and HFpEF in India. This indicates that a large number remains undiagnosed. ATTR-CA should be looked for in older patients with aortic stenosis (prevalence 16%) and especially in low flow low gradient aortic stenosis (prevalence 78%) as the prognosis is poor.[5] There should be a shift toward earlier recognition and treatment of CA. ATTR-CA, which was once considered an orphan disease, is no longer one. For early diagnosis, a “cardiomyopathy-aware” mindset is crucial. Appropriate recognition of hints (red flags) and rational selection of further diagnostic tests are crucial. The management of cardiac amyloidosis has changed drastically in the recent years with availability of multiple treatment options as well as many more in the pipeline. The treatment focusses beyond mere survival, but also on quality of life, functional capacity and ultimately remission and regression. Tafamidis, a transthyretin stabilizer has shown significant benefit in reducing mortality and heart failure hospitalizations and improves quality of life and is now available in India. The concept is moving from dying of CA to dying with CA and may be even reversal of CA. For that, D H Lawrence has to be proven wrong. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.