Diagnostic problems of rare diseases - amyloidosis. A case report

• Published in: Journal of education, health and sport health and sport, 2024-02, Vol.56, p.37-53
• Main Authors: Senat, Hanna, Grabowska, Patrycja, Senat, Aleksandra, Bolla, Patrycja, Madej, Aleksandra, Matus, Iwona, Janicka, Natalia, Marczynska, Zuzanna
• Format: Article
• Language: English
• Subjects: amyloid; amyloidosis AL; amyloidosis treatment; brain failure; cardiac amyloidosis; heart failure
• ISSN: 2391-8306; 2391-8306
• DOI: 10.12775/JEHS.2024.56.003

The presented case study focuses on the complexities and challenges in diagnosingone of the forms of amyloidosis, where abnormal protein (amyloid) deposits in variousorgans and tissues lead to affection of many organs, especially the heart, kidneys, liver,spleen, and occasionally the central nervous system. Its aetiology remains largely unknown,making diagnosis and treatment particularly challenging.This report details the case of an 88-year-old patient, disabled for months (with amodified Rankin Scale score of 4), who presented to the Neurology Department with suddenright limb paresis and speech disorders. Initial assessments indicated suggested ischemicstroke, and patients received thrombolysis. Further laboratory tests and imaging, includingserum protein electrophoresis and computer tomograph (CT) scans, suggested transthyretinamyloidosis (ATTR), which was later confirmed through genetic testing.This case underscores the rapid, multi-organ progression of amyloidosis and itsdevastating impact, highlighting the necessity for early diagnosis and a multidisciplinarytreatment approach.Despite ongoing research, the pathogenesis of amyloidosis remains elusive, andcurrent treatment options are primarily symptomatic. This study aims to shed light on thediagnostic difficulties and the urgent need for timely intervention in amyloidosis cases.