Damy et al reported a disease severity score for a patient with hereditary transthyretin amyloidosis (ATTRv). A group of findings relates to involvement of miscellaneous organs. The authors are from multiple institutions in Europe.
Patient selection: hereditary transthyretin amyloidosis
Parameters for the gastrointestinal tract involvement:
(1) weight loss
(2) profuse and watery diarrhea
(3) fecal incontinence
(4) serum albumin
Parameters for urogenital disease:
(1) urinary incontinence
(2) incomplete voiding
(3) creatinine clearance
Parameter for skin involvement:
(1) skin ulcerations
|
Parameters
|
Findings
|
Points
|
|
weight loss
|
absent
|
0
|
|
|
present
|
0.53
|
|
profuse and watery diarrhea
|
absent
|
0
|
|
|
present
|
0.70
|
|
fecal incontinence
|
absent
|
0
|
|
|
present
|
0.74
|
|
serum albumin
|
normal
|
0
|
|
|
abnormal
|
0.46
|
|
urinary incontinence
|
absent
|
0
|
|
|
present
|
0.32
|
|
incomplete voiding
|
absent
|
0
|
|
|
present
|
0.24
|
|
creatinine clearance
|
high
|
0.08
|
|
|
normal
|
0
|
|
|
low
|
0.31
|
|
skin ulceration
|
absent
|
0
|
|
|
present
|
0.10
|
where:
• The cutoff for albumin is not specified. A value less than 3.5 g/dL will be considered low.
• The cutoffs for creatinine clearance are not specified. A clearance > 100 mL per min per 1.73 square meters will be used for elevated and < 60 for low.
subscore for gastrointestinal involvement =
= SUM(points for the 4 GI parameters)
subscore for urogenitaldisease =
= SUM(points for the 3 GU parameters)
subscore for skin involvement =
= (points for skin ulceration)
Interpretation:
• minimum subscores: 0
• maximum subscore for GI involvement: 2.43
• maximum subscore for urogenital disease: 0.87
• maximum subscore for skin ulceration: 0.10
