AI Article Synopsis
- Senile systemic amyloidosis is typically linked to older adults due to amyloid buildup from wild-type transthyretin, often leading to misdiagnosis as normal aging.
- A case study presents a 34-year-old man showing symptoms of this disease, including exertional dyspnea and a history of hypertension, challenging the assumption it's an age-related condition.
- Diagnosis involved echocardiography and abdominal fat biopsy confirming amyloid deposits, and despite treatment for hypertension, the patient succumbed, highlighting the need for awareness of this condition in younger patients with unexplained cardiac issues.
Article Abstract
Rationale: Senile systemic amyloidosis, a disease of elderly is caused by amyloid deposition of wild-type transthyretin. The symptoms often overlap with other heart diseases. Hence it is either misdiagnosed or considered as a normal aging process in majority of cases.
Patient Concerns: We present a young patient of wild-type transthyretin amyloidosis, contradicting its only senile presence. The 34-year-old man presented with dyspnoea on exertion. He was suffering from hypertension for consecutive 3 years.
Diagnosis: Echocardiography demonstrated left ventricular hypertrophy with reduced global longitudinal strain and apical sparing. Congo red staining and immuno-histochemical staining of the abdominal fat biopsy confirmed transthyretin amyloid deposition. Genetic analysis revealed absence of any mutant variant/s of transthyretin gene, confirming wild-type transthyretin amyloidosis.
Intervention: A combination of amlodipine 5 mg, telmisartan 40 mg, and chlorthalidone 12.5 mg once daily was given to control the blood pressure of the patient.
Outcome: Blood pressure was controlled but he continued to have exertional dyspnoea. The patient expired in December 2019.
Lessons: A systematic diagnosis for wild type transthyretin amyloid cardiomyopathy (ATTR-CM) shall be considered in young cardiac patients suffering from cardiac distress with unknown etiology.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8084012 | PMC |
| http://dx.doi.org/10.1097/MD.0000000000025462 | DOI Listing |
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