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...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
SINAPS LLC
2021-05-01
|
| Series: | Архивъ внутренней медицины |
| Subjects: | |
| Online Access: | https://www.medarhive.ru/jour/article/view/1240 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849400718995226624 |
|---|---|
| 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. |
| format | Article |
| id | doaj-art-4587eae16d654280acd3cc0bfd12de83 |
| institution | Kabale University |
| issn | 2226-6704 2411-6564 |
| language | Russian |
| publishDate | 2021-05-01 |
| publisher | SINAPS LLC |
| record_format | Article |
| series | Архивъ внутренней медицины |
| spelling | doaj-art-4587eae16d654280acd3cc0bfd12de832025-08-20T03:37:56ZrusSINAPS 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. Seksyaev5Russian National Research Medical University (RNRMU) n.a. N.I. Pirogov; City Clinical Hospital n.a. V.M. Buyanov of Healthcare Department of Moscow; City Clinical Hospital n.a. V.P. Demikhov of Healthcare Department of Moscow; City Clinical Hospital № 31 of Healthcare Department of MoscowRussian National Research Medical University (RNRMU) n.a. N.I. PirogovRussian National Research Medical University (RNRMU) n.a. N.I. Pirogov; City Clinical Hospital n.a. V.M. Buyanov of Healthcare Department of MoscowCity Clinical Hospital n.a. V.M. Buyanov of Healthcare Department of MoscowPerm State Medical University named after Academician E.A. Wagner Ministry of Health of RussiaPerm Regional Clinical HospitalIntroduction: 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/1240asymptomatic cardiomyopathycardiac amyloidosistransthyretintransthyretin familial amyloid polyneuropathyttr-fapattr amyloidosis |
| 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 asymptomatic cardiomyopathy cardiac amyloidosis transthyretin transthyretin familial amyloid polyneuropathy ttr-fap attr amyloidosis |
| 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 | asymptomatic cardiomyopathy cardiac amyloidosis transthyretin transthyretin familial amyloid polyneuropathy ttr-fap attr amyloidosis |
| url | https://www.medarhive.ru/jour/article/view/1240 |
| work_keys_str_mv | AT evreznik aclinicalcaseofthehereditarytransthyretinamyloidosis AT tlnguyen aclinicalcaseofthehereditarytransthyretinamyloidosis AT svborisovskaya aclinicalcaseofthehereditarytransthyretinamyloidosis AT lvbrylev aclinicalcaseofthehereditarytransthyretinamyloidosis AT avzhelnin aclinicalcaseofthehereditarytransthyretinamyloidosis AT neseksyaev aclinicalcaseofthehereditarytransthyretinamyloidosis AT evreznik clinicalcaseofthehereditarytransthyretinamyloidosis AT tlnguyen clinicalcaseofthehereditarytransthyretinamyloidosis AT svborisovskaya clinicalcaseofthehereditarytransthyretinamyloidosis AT lvbrylev clinicalcaseofthehereditarytransthyretinamyloidosis AT avzhelnin clinicalcaseofthehereditarytransthyretinamyloidosis AT neseksyaev clinicalcaseofthehereditarytransthyretinamyloidosis |