Diagnostic problems of rare diseases - amyloidosis. A case report

Abstract

The presented case study focuses on the complexities and challenges in diagnosing
one of the forms of amyloidosis, where abnormal protein (amyloid) deposits in various
organs 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 a
modified Rankin Scale score of 4), who presented to the Neurology Department with sudden
right limb paresis and speech disorders. Initial assessments indicated suggested ischemic
stroke, and patients received thrombolysis. Further laboratory tests and imaging, including
serum protein electrophoresis and computer tomograph (CT) scans, suggested transthyretin
amyloidosis (ATTR), which was later confirmed through genetic testing.
This case underscores the rapid, multi-organ progression of amyloidosis and its
devastating impact, highlighting the necessity for early diagnosis and a multidisciplinary
treatment approach.
Despite ongoing research, the pathogenesis of amyloidosis remains elusive, and
current treatment options are primarily symptomatic. This study aims to shed light on the
diagnostic difficulties and the urgent need for timely intervention in amyloidosis cases.