Introduction: Transthyretin (ATTR) amyloidosis is a rare disease with cardiac involvement, peripheral nervous system involvement, and spinal stenosis. Elevated plasma lipoprotein(a) (Lpa) levels are recognized as a significant risk factor for atherosclerotic cardiovascular and cerebrovascular diseases. Currently, information on the relationship between ATTR amyloidosis and Lpa is very limited. Clinical case: A female patient had suffered from arterial hypertension with an increase in blood pressure (BP) to 150/90 mmHg for 5 years since the age of 45. After suffering from the new coronavirus infection COVID-19 from 02.06 to 25.06.2021, patient began to notice an increase in blood pressure to 290/150 mm Hg, stabbing pains in the left half of the chest lasting up to 20-30 minutes without any connection with physical activity, which are relieved after taking Corvalol, pain in the cervical and thoracic spine. Due to antihypertensive therapy, stabilization of blood pressure at 110/70 mm Hg was noted. Further examination revealed dyslipidemia (low-density lipoprotein cholesterol 4.53 mmol/l), atherosclerosis of the extracranial parts of the brachiocephalic arteries with stenosis of the right internal carotid artery up to 20%, hyperlipoprotein(a)emia 1.46 g/l (normal up to 0.5 g/l). Echocardiography revealed left ventricular wall thickening and preserved ejection fraction, thickening of the interatrial septum, mitral valve cusps. MRI of the spine revealed stenosis of the spinal canal at the level of C5-6 - the "red flag" of amyloidosis. Genetic testing revealed a variant of the nucleotide sequence of the transthyretin gene (Chr18: 29171879 GA, p.Arg5His) in a heterozygous state in the patient and her blood relatives. The issue of specific antiamyloid therapy with tafamidis was considered, lipid-lowering therapy was prescribed. Conclusion. In patients with spinal canal stenosis syndrome and left ventricular wall thickening, even in the presence of arterial hypertension, a comprehensive examination is necessary for timely diagnosis and adequate therapy of amyloid cardiomyopathy. The combination of familial ATTR amyloidosis and familial hyperlipoprotein(a)emia has been described for the first time.
Read full abstract