Introduction: Transthyretin (ATTR) amyloidosis is a severe rare disease with wide range of characters without specific symptoms including the damage to the peripheral nervous system and cardiac involvement. Case report: A 60-year-old female patient represented with weakness and paresthesia in the distal parts of the lower limbs, impeding walking for 2 years. Initially, symptoms were considered as a manifestation of degenerative stenosis of the lumbar spine, decompressive laminectomy was performed but the symptoms after surgical treatment persisted. Based on data from clinical and electroneuromyographic examinations, axonal sensorimotor polyneuropathy was diagnosed. Genetic testing of the patient, her elder sister, son and daughter using the Sanger sequencing method detected a variant of the nucleotide sequence in the fourth exon of the transthyretin gene (Chr18: 29178562, rs148538950, NM_000371.3: c.G368A: p. Arg123His) in the heterozygous state. A subcutaneous fatty tissue biopsy of abdominal wall with a Congo red stain and polarized light examination revealed amyloid microdeposits, grade CR 1+ (minimal deposits), confirmed the diagnosis of familial ATTR-amyloidosis. Echocardiography revealed concentric left ventricular wall thickening with normal end diastolic size and volume, preserved ejection fraction, left atrial enlargement, pulmonary hypertension and type 1 diastolic dysfunction. Specific anti-amyloid therapy — tafamidis was prescribed. Conclusion: In patients with peripheral polyneuropathy and left ventricular hypertrophy of unknown etiology, a complex examination is necessary for the timely detection and treatment of amyloid polyneuropathy and cardiomyopathy.
Left ventricular hypertrophy, atrial fibrillation and chronic heart failure are often in the practice of a cardiologist. The etiology of these conditions is very important because the correct early treatment. We are presenting a case of a late diagnosis of amyloidosis in a 53-year-old man. Despite the complex therapy, the course of the disease was complicated by the development of bilateral pneumonia, sepsis, disseminated intravascular coagulation and the patient died. Autopsy confirmed the diagnosis of systemic AL-amyloidosis (type Kappa) with massive damage to the heart, kidneys, lungs, liver, spleen, adrenal glands, thyroid gland, pancreas, gastrointestinal tract, subcutaneous fatty tissue and arterial vessels of the bone marrow. Thus, screening for amyloidosis is necessary in idiopathic LV thickening, atrial fibrillation, and heart failure for timely intravital diagnosis and therapy.
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