Q. What is amyloidosis?
It is a rare disease condition wherein a protein known as amyloid starts building up in the organs. The organs of its target may include the liver, kidney, spleen, heart, blood vessels, tongue, nervous system and the digestive tract. In whichever organ the amyloid buildup occurs, it would lead to organ dysfunction and if not diagnosed timely and managed effectively, may lead to organ failure. Under some conditions, the amyloid build-up also occurs throughout the body instead of targeting specific organ/organs.
In the early stages of amyloid build up, symptoms may or may not occur and are very non-specific in nature. However, as the build up goes unchecked, symptoms begin to appear, again, related to the organ where the amyloid is building up and also the type/nature of amyloidosis.
This brings us to the types of amyloidosis;
· Primary – the most common form
· Secondary – arises out of chronic inflammation or infection
· Familial – the inherited form
· Wild type – diagnosed only in the geriatric population
So what are the risk factors that predispose to amyloidosis? Genetic predisposition, advancing age, predominance is observed in males, those with a history of chronic inflammation or chronic infection and those on dialysis for a long time could be at risk of amyloid buildup.
A diagnosis of amyloidosis involves taking into account complete medical history, physical examination along with biochemical profile estimation to detect amyloid buildup. But a biopsy or a bone marrow test is the gold standard for diagnosing amyloidosis.
The treatment of amyloidosis is aimed at relieving the symptoms and improving the quality of life (the condition cannot be cured). The type of amyloidosis and the organ/organs it has targeted determines the treatment protocol. It is the degree of involvement of amyloid buildup in the heart that determines the prognosis.
The challenge: although rare, amyloidosis remains underdiagnosed.
Disclaimer: The information shared in the blog is aimed at increasing your awareness and is not a substitute for professional medical advice.
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References
- Vaxman I, Gertz M. When to suspect a diagnosis of amyloidosis. Acta Haematol. 2020;143(4):304–11.
- Kumar, N., Zhang, N.J., Cherepanov, D. et al.Global epidemiology of amyloid light-chain amyloidosis. Orphanet J Rare Dis 17, 278 (2022).
- Lin HM, Gao X, Cooke CE, et al. Disease burden of systemic light-chain amyloidosis: a systematic literature review. Curr Med Res Opin. 2017;33(6):1017–31.
