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2023 | HFSA

The Silent Intruder: Amyloidosis' Hidden Role in Heart Failure

Patient News Heart Failure Awareness 365

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Heart failure is a complex and debilitating condition affecting millions of individuals worldwide. While it has several underlying causes, one often-overlooked contributor to heart failure is amyloidosis. Amyloidosis is a rare but serious disease characterized by the buildup of abnormal proteins in various organs, including the heart.1,2

Understanding Amyloidosis

Amyloidosis occurs when a protein called amyloid builds up in different parts of the body, including the nervous system, tissues or even organs.1,2 These abnormal proteins (amyloids) are misfolded and can impair the normal functioning of organs, including the heart.1,2 There are different types of amyloidosis, but two forms stand out for their connection to heart failure: AL amyloidosis (immunoglobulin light chain) and ATTR amyloidosis (transthyretin).2,3,4 Symptoms of amyloidosis may vary, depending on which organs are affected. Signs and symptoms of amyloidosis may include1,2:

  • Severe fatigue and weakness
  • Shortness of breath
  • Numbness, tingling, or pain in the hands or feet (polyneuropathy) 
  • Swelling of the ankles and legs
  • Diarrhea, possibly with blood, or constipation
  • An enlarged tongue, which sometimes looks rippled around its edge
  • Skin changes, such as thickening or easy bruising, and purplish patches around the eyes

Due to the similarity of these symptoms with other heart conditions, amyloidosis is often misdiagnosed or diagnosed late, emphasizing the importance of raising awareness about its hidden role in heart failure.4   

The Hidden Role in Heart Failure (HF)

Amyloidosis can affect the heart in several ways, leading to heart failure:

  1. Cardiac Amyloidosis: In cardiac amyloidosis, sometimes called stiff heart syndrome, amyloid deposits take the place of normal heart muscle, disrupting the heart's normal structure and function. This can lead to restrictive cardiomyopathy, a condition where the heart becomes stiff and less able to pump blood effectively.5,6
  2. Diastolic Dysfunction: Amyloid deposits in the heart can make it difficult for the heart to relax properly during the diastolic phase, impairing its ability to fill with blood. This diastolic dysfunction can result in heart failure with preserved ejection fraction (HFpEF).7
  3. Arrhythmias: Amyloidosis can disrupt the heart's electrical system, leading to arrhythmias (irregular heart rhythms) that can further exacerbate heart failure symptoms.7


Diagnosing Amyloidosis 

Amyloidosis can be confirmed through specialized tests, including tissue biopsies or imaging scans such as MRIs. Some cases of amyloidosis are hereditary, so if you or anyone else in your family has or had amyloidosis, it can be beneficial for you to take a genetic test to determine if you carry the gene. 

Learn More About Amyloidosis 

Amyloidosis, which can be a hidden contributor to heart failure, deserves greater recognition and awareness within the medical community and among patients.8 Timely diagnosis and appropriate management can make a significant difference in the prognosis of individuals affected by amyloidosis.9 For more information on living with amyloidosis, visit MyATTRRoadmap.com.

References
1. Amyloidosis: What It Is, Symptoms, Types & Treatment. https://my.clevelandclinic.org/health/diseases/23398-amyloidosis [Last accessed: 09 2023]
2. Wilson Tang WH Faculty Opinions. Published online 2021. doi:10.12703/r/10-31
3. Ando Y et al. Guideline of Transthyretin-Related Hereditary Amyloidosis for Clinicians. Orphanet J Rare Dis. 2013;8(1):1-18. doi:10.1186/1750-1172-8-31/TABLES/2
4. Benson MD, Dasgupta NR, Rao R. Diagnosis and screening of patients with hereditary transthyretin amyloidosis (hattr): Current strategies and guidelines [Internet]. Therapeutics and clinical risk management. Dove; 2020 [cited 2022Sep30]. 
5. Law S et al. Disease Progression in Cardiac Transthyretin Amyloidosis Is Indicated by Serial Calculation of National Amyloidosis Centre Transthyretin Amyloidosis Stage. ESC Heart Fail. 2020;7(6):3942-3949. doi:10.1002/EHF2.12989
6. American Heart Association. Transthyretin Amyloid Cardiomyopathy (ATTR-CM) https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/transthyretin-amyloid-cardiomyopathy-attr-cm. [Last accessed: 09 2023]
7. Oerlemans, M.I.F.J., Rutten, K.H.G., Minnema, M.C. et al. Cardiac amyloidosis: the need for early diagnosis. Neth Heart J 27, 525–536 (2019). https://doi.org/10.1007/s12471-019-1299-1
8. Every Moment Matters. www.sec.gov, [Last accessed: 09 2023]
9. Merlini G et al. Systemic Immunoglobulin Light Chain Amyloidosis. Nat Rev Dis Primers. 2018;4(1). doi:10.1038/S41572-018-0034-3

 


 

Helpful Resources

Visit the HFSA Patient Hub to explore tools and resources to help patients stay healthy while living with heart failure. 

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