Etiological diagnosis of primary adrenal insufficiency using an original flowchart of immune and biochemical markers
Laureti, Stefano ; Aubourg, Patrick ; Calcinaro, Filippo ; Rocchiccioli, Francis ; Casucci, Giovanni ; Angeletti, Gabriella ; Brunetti, Paolo ; Lernmark, Åke LU
; Santeusanio, Fausto
and Falorni, Alberto
(1998)
In Journal of Clinical Endocrinology and Metabolism
83(9).
p.3163-3168
- Abstract
Approximately 70-80% of cases of primary adrenal insufficiency are classified as idiopathic. An effective protocol for the etiological diagnosis of primary adrenal insufficiency is needed to ensure correct patient management. With the aim of developing an algorithm for the etiological diagnosis of primary adrenal insufficiency, we studied 56 Italian patients with nonsurgical primary adrenal insufficiency and 24 French patients with X- linked adrenoleukodystrophy (ALD) for serum levels of adrenal cortex, steroid-21-hydroxylase (21OHAb), islet cell (ICA), glutamate decarboxylase (GAD65Ab), IA2/ICA512 (ICA512Ab), thyroid peroxidase (TPOAb) autoantibodies, and plasmatic concentrations of very long chain fatty acids (VLCFA). High levels of... (More)
Approximately 70-80% of cases of primary adrenal insufficiency are classified as idiopathic. An effective protocol for the etiological diagnosis of primary adrenal insufficiency is needed to ensure correct patient management. With the aim of developing an algorithm for the etiological diagnosis of primary adrenal insufficiency, we studied 56 Italian patients with nonsurgical primary adrenal insufficiency and 24 French patients with X- linked adrenoleukodystrophy (ALD) for serum levels of adrenal cortex, steroid-21-hydroxylase (21OHAb), islet cell (ICA), glutamate decarboxylase (GAD65Ab), IA2/ICA512 (ICA512Ab), thyroid peroxidase (TPOAb) autoantibodies, and plasmatic concentrations of very long chain fatty acids (VLCFA). High levels of 21OH and adrenal cortex antibodies were found in 35/42 (83%) and 17/42 (40%) Italian patients with idiopathic adrenal insufficiency, respectively. Levels of adrenal autoantibodies correlated inversely with disease duration (P < 0.0001). Elevated VLCFA were found in 4/42 (10%) idiopathic patients. A total of 34/35 (97%) idiopathic patients with a disease duration of less than 20 yr was positive for either 21OHAb or elevated levels of VLCFA. None of 14 patients with posttuberculosis adrenal insufficiency had elevated levels of either adrenal antibodies or VLCFA. ICA, GAD65Ab, ICA512Ab, and TPOAb were found in 6/56 (11%), 8/56 (14%), 4/56 (7%), and 23/56 (41%) patients, respectively. None of 24 French ALD patients with adrenal insufficiency was positive for organ-specific autoantibodies. The measuring of 210H antibodies and plasma VLCFA levels enabled a correct diagnosis of autoimmune (89%)and ALD (8%) in 97% of patients with idiopathic primary adrenal insufficiency of less than 20 yr of duration. The results of our study have important therapeutic and prognostic implications.
(Less)
- author
- Laureti, Stefano
; Aubourg, Patrick
; Calcinaro, Filippo
; Rocchiccioli, Francis
; Casucci, Giovanni
; Angeletti, Gabriella
; Brunetti, Paolo
; Lernmark, Åke
LU
; Santeusanio, Fausto
and Falorni, Alberto
- publishing date
- 1998-11-14
- type
- Contribution to journal
- publication status
- published
- in
- Journal of Clinical Endocrinology and Metabolism
- volume
- 83
- issue
- 9
- pages
- 3163 - 3168
- publisher
- Oxford University Press
- external identifiers
-
- scopus:7844227670
- pmid:9745420
- ISSN
- 0021-972X
- DOI
- 10.1210/jcem.83.9.5103
- language
- English
- LU publication?
- no
- id
- 25188e02-ff9f-4cfc-8c01-9704138cdc09
- date added to LUP
- 2019-06-30 23:39:24
- date last changed
- 2024-05-28 19:54:07
@article{25188e02-ff9f-4cfc-8c01-9704138cdc09,
abstract = {{<p>Approximately 70-80% of cases of primary adrenal insufficiency are classified as idiopathic. An effective protocol for the etiological diagnosis of primary adrenal insufficiency is needed to ensure correct patient management. With the aim of developing an algorithm for the etiological diagnosis of primary adrenal insufficiency, we studied 56 Italian patients with nonsurgical primary adrenal insufficiency and 24 French patients with X- linked adrenoleukodystrophy (ALD) for serum levels of adrenal cortex, steroid-21-hydroxylase (21OHAb), islet cell (ICA), glutamate decarboxylase (GAD65Ab), IA2/ICA512 (ICA512Ab), thyroid peroxidase (TPOAb) autoantibodies, and plasmatic concentrations of very long chain fatty acids (VLCFA). High levels of 21OH and adrenal cortex antibodies were found in 35/42 (83%) and 17/42 (40%) Italian patients with idiopathic adrenal insufficiency, respectively. Levels of adrenal autoantibodies correlated inversely with disease duration (P < 0.0001). Elevated VLCFA were found in 4/42 (10%) idiopathic patients. A total of 34/35 (97%) idiopathic patients with a disease duration of less than 20 yr was positive for either 21OHAb or elevated levels of VLCFA. None of 14 patients with posttuberculosis adrenal insufficiency had elevated levels of either adrenal antibodies or VLCFA. ICA, GAD65Ab, ICA512Ab, and TPOAb were found in 6/56 (11%), 8/56 (14%), 4/56 (7%), and 23/56 (41%) patients, respectively. None of 24 French ALD patients with adrenal insufficiency was positive for organ-specific autoantibodies. The measuring of 210H antibodies and plasma VLCFA levels enabled a correct diagnosis of autoimmune (89%)and ALD (8%) in 97% of patients with idiopathic primary adrenal insufficiency of less than 20 yr of duration. The results of our study have important therapeutic and prognostic implications.</p>}},
author = {{Laureti, Stefano and Aubourg, Patrick and Calcinaro, Filippo and Rocchiccioli, Francis and Casucci, Giovanni and Angeletti, Gabriella and Brunetti, Paolo and Lernmark, Åke and Santeusanio, Fausto and Falorni, Alberto}},
issn = {{0021-972X}},
language = {{eng}},
month = {{11}},
number = {{9}},
pages = {{3163--3168}},
publisher = {{Oxford University Press}},
series = {{Journal of Clinical Endocrinology and Metabolism}},
title = {{Etiological diagnosis of primary adrenal insufficiency using an original flowchart of immune and biochemical markers}},
url = {{http://dx.doi.org/10.1210/jcem.83.9.5103}},
doi = {{10.1210/jcem.83.9.5103}},
volume = {{83}},
year = {{1998}},
}