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Table 3 Signs and Symptoms Associated with hATTR Amyloidosis

From: Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being

Symptoma

Patientb

01

02

03

04

05

06

07

08

09

10

11

12

13

14

Total

Pain

 

 

12

Numbness

 

 

12

Fatigue, Lethargy

 

 

12

Weakness

 

 

 

 

10

Gastrointestinal dysfunction

 

  

 

  

8

Cognitive dysfunction

 

 

 

 

 

 

8

Paresthesia

  

 

  

 

8

Cardiac dysfunction

  

  

 

 

8

Loss of motor function

 

 

 

    

7

Loss of balance

    

  

  

6

Carpal tunnel syndrome

   

 

 

 

  

6

Dizziness

   

 

     

5

Genitourinary dysfunction

 

  

       

4

Ocular issues

 

  

     

  

4

Difficulty breathing

  

      

 

 

4

Swelling

        

   

3

Weight loss or difficulty gaining

   

   

     

3

Hot sensations

 

           

2

Difficulty swallowing, Choking

     

       

2

Total

11

3

13

9

6

12

5

10

9

10

7

10

5

14

 
  1. aFourteen symptoms were mentioned by only one patient each: altered taste, back spasms, body temperature dysregulation, elevated adrenaline, heat intolerance, inability to get pregnant, insomnia, migraine, muscle tightness, nausea, perspiration, sensitivity to weather, blood pooling, and weakened voice
  2. bGenetic variants reported by patients: V30M (patient #s 01, 02, 03, 05, and 07), T60A (#s 11, 12, 14), A97S (#04), Y114H (#08), F64L (#09), E54G (#10), and unsure (#s 06 and 13)