A Clinical Case of the Hereditary Transthyretin Amyloidosis
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 di...
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SINAPS LLC
2021-05-01
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| Series: | Архивъ внутренней медицины |
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| Online Access: | https://www.medarhive.ru/jour/article/view/1240 |
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| author | E. V. Reznik T. L. Nguyen S. V. Borisovskaya L. V. Brylev A. V. Zhelnin N. E. Seksyaev |
| author_facet | E. V. Reznik T. L. Nguyen S. V. Borisovskaya L. V. Brylev A. V. Zhelnin N. E. Seksyaev |
| author_sort | E. V. Reznik |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T03:55:54Z |
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| last_indexed | 2024-04-10T03:55:54Z |
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| record_format | Article |
| series | Архивъ внутренней медицины |
| spelling | doaj.art-4587eae16d654280acd3cc0bfd12de832023-03-13T07:12:10ZrusSINAPS LLCАрхивъ внутренней медицины2226-67042411-65642021-05-0111322924010.20514/2226-6704-2021-11-3-229-240847A Clinical Case of the Hereditary Transthyretin AmyloidosisE. V. Reznik0T. L. Nguyen1S. V. Borisovskaya2L. V. Brylev3A. V. Zhelnin4N. E. Seksyaev5ФГАОУ ВО РНИМУ им. Н.И. Пирогова МЗ РФ; ГБУЗ ГКБ им. В.М. Буянова ДЗМ; ГБУЗ ГКБ им. В.П. Демихова ДЗМ; ГБУЗ ГКБ № 31 ДЗМФГАОУ ВО РНИМУ им. Н.И. Пирогова МЗ РФФГАОУ ВО РНИМУ им. Н.И. Пирогова МЗ РФ; ГБУЗ ГКБ им. В.М. Буянова ДЗМГБУЗ ГКБ им. В.М. Буянова ДЗМФГБОУ ВО Пермский государственный медицинский университет имени ак. Е.А. Вагнера Минздрава РоссииГБУЗ ПК «Ордена «Знак Почёта» Пермская краевая клиническая больницаIntroduction: 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.https://www.medarhive.ru/jour/article/view/1240амилоидная кардиомиопатияамилоидоз сердцатранстиретинтранстиретиновая семейная амилоидная полинейропатияttr-fapattr амилоидозаттр-амилоидоз |
| spellingShingle | E. V. Reznik T. L. Nguyen S. V. Borisovskaya L. V. Brylev A. V. Zhelnin N. E. Seksyaev A Clinical Case of the Hereditary Transthyretin Amyloidosis Архивъ внутренней медицины амилоидная кардиомиопатия амилоидоз сердца транстиретин транстиретиновая семейная амилоидная полинейропатия ttr-fap attr амилоидоз аттр-амилоидоз |
| title | A Clinical Case of the Hereditary Transthyretin Amyloidosis |
| title_full | A Clinical Case of the Hereditary Transthyretin Amyloidosis |
| title_fullStr | A Clinical Case of the Hereditary Transthyretin Amyloidosis |
| title_full_unstemmed | A Clinical Case of the Hereditary Transthyretin Amyloidosis |
| title_short | A Clinical Case of the Hereditary Transthyretin Amyloidosis |
| title_sort | clinical case of the hereditary transthyretin amyloidosis |
| topic | амилоидная кардиомиопатия амилоидоз сердца транстиретин транстиретиновая семейная амилоидная полинейропатия ttr-fap attr амилоидоз аттр-амилоидоз |
| url | https://www.medarhive.ru/jour/article/view/1240 |
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