Clinical features of 4 pedigrees with transthyretin related familial amyloid polyneuropathy
10.3760/cma.j.cn115354-20200705-00537
- VernacularTitle:四个TTR-FAP家系的临床特征分析
- Author:
Juan KANG
1
;
Changhui LEI
;
Chao LIU
;
Yuqiao XU
;
Bo WANG
;
Liwen LIU
;
Yanchun DENG
Author Information
1. 空军军医大学第一附属医院神经内科，西安 710032
- Keywords:
Transthyretin;
Familial amyloid polyneuropathy;
Clinical feature
- From:
Chinese Journal of Neuromedicine
2021;20(3):250-257
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical manifestations of 4 pedigrees with transthyretin related familial amyloid polyneuropathy (TTR-FAP).Methods:The clinical data were collected and analyzed from 4 pedigrees with TTR-AFP, admitted to our hospital from July 2017 to May 2019; 20 patients and 2 asymptomatic carriers of the TTR mutation gene were included. In particular, the detailed data of the 4 probands affected with TTR-FAP came from the 4 different pedigrees were collected. Results:In these 20 patients, the age of onset ranged from 30 to 65; the first symptoms of diarrhea, constipation, alternating episodes of constipation and diarrhea were found; there were damaged peripheral nerve and inexplicable weight loss; cardiomyopathy was noted in 9 patients; orthostatic hypotension was noted in 9 patients, sexual dysfunction in 5, abnormal urination in 6, and blurred vision or corestenoma in 3. TTR mutation gene was confirmed in 7 patients and pathological diagnosis was found in 3 patients. Diflunisal was used in one patient and tafamidis was used 2 patients. Twelve died and 8 patients survived among 20 patients with disease progression. All the 4 probands were male, with an average age of 49.3 years; all patients had different degrees of sensorimotor peripheral neuropathy, autonomic neuropathy and cardiomyopathy; electrophysiological examination suggested length dependent sensory motor peripheral neuropathy of the extremities, with axonal damage as the evidence; and cardiac hypertrophy was noted in echocardiography. The sural nerve biopsy of the 3 probands showed positive Congo red staining. Medical whole exon sequencing indicated that 2 probands had pathogenic mutations (TTR-E74K and TTR-A140S), and 1 proband had likely pathogenic mutation (TTR-S70R). Two asymptomatic carriers of the TTR gene mutation remained normal condition. Conclusion:The clinical manifestations of TTR-FAP include progressive sensorimotor and autonomic neuropathy, and multi-system disorders, such as combining with gastrointestinal problems, hypertrophic myocardium, inexplicable weight loss and blurred vision or corestenoma, which might be important reminders for diagnosis of TTR-FAP.
