Autoimmunity predominates in a large South African cohort with addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201

Ian Ross, Andrew Boulle, Steven Soule, Naomi Levitt, Fraser Pirie, Anders Karlsson, Japie Mienie, Ping Yang, Hongjie Wang, Jin-Xiong She, William Winter, Desmond Schatz

Research output: Contribution to journalArticle

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Abstract

Objective We sought to determine whether autoimmunity is the predominant cause of Addison's disease in South Africa and whether human leucocyte antigen (HLA) DQ association exists. Design We compiled a national registry of patients from primary care, referral centres and private practices. Patients A total of 144 patients, 94 of European descent, 34 Mixed Ancestry, 5 Asian and 11 Black Africans (mean age 45·9 years, range 2·7-88 years; mean duration of disease 13·1 years, range 0-50 years) and controls were matched for gender and ethnicity. All potential causes were investigated. Results Fifty one per cent of cases (74 patients) were autoimmune in aetiology. Either 21-hydroxylase autoantibodies (72 patients, 50% of entire patient group) or adrenocortical autoantibodies (35 patients, 24%) were present, while 23% of patients had both. None of the Asian (n = 5) or Black (n = 11) patients had evidence of autoimmune disease. Overall 8% of patients had tuberculosis, 4% adrenoleucodystrophy, 1% adrenocorticotrophic hormone resistance syndrome and 6% X-linked adrenal hypoplasia. In those with autoimmune disease primary hypothyroidism (47%), premature ovarian failure (8%) and type 1 diabetes (7%) were the most prevalent accompanying autoimmune conditions. HLA DQB1*0201 alleles predominated in the autoimmune group (DQB1*0201: 65%vs 43% of controls P = 0·017) with the *0201/*0302 heterozygous genotype being the most prevalent (28%vs 8%P = 0·02). Conclusions While autoimmunity accounts for at least half of patients with Addison's disease in South Africa and is associated with HLA DQB1*0201, none of the Black Africans or Asians in this cohort had adrenal autoantibodies. Moreover, 21-hydroxylase autoantibodies were detectable in a higher proportion than adrenocortical autoantibodies, especially in those patients with a long history after disease onset.

Original languageEnglish (US)
Pages (from-to)291-298
Number of pages8
JournalClinical Endocrinology
Volume73
Issue number3
DOIs
StatePublished - Sep 1 2010

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Addison Disease
HLA Antigens
Autoimmunity
Autoantibodies
Steroid 21-Hydroxylase
South Africa
Autoimmune Diseases
Adrenoleukodystrophy
Primary Ovarian Insufficiency
Private Practice
Hypothyroidism
Type 1 Diabetes Mellitus
Adrenocorticotropic Hormone
Registries
Primary Health Care
Patient Care
Tuberculosis
Referral and Consultation
History
Alleles

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Autoimmunity predominates in a large South African cohort with addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201. / Ross, Ian; Boulle, Andrew; Soule, Steven; Levitt, Naomi; Pirie, Fraser; Karlsson, Anders; Mienie, Japie; Yang, Ping; Wang, Hongjie; She, Jin-Xiong; Winter, William; Schatz, Desmond.

In: Clinical Endocrinology, Vol. 73, No. 3, 01.09.2010, p. 291-298.

Research output: Contribution to journalArticle

Ross, Ian ; Boulle, Andrew ; Soule, Steven ; Levitt, Naomi ; Pirie, Fraser ; Karlsson, Anders ; Mienie, Japie ; Yang, Ping ; Wang, Hongjie ; She, Jin-Xiong ; Winter, William ; Schatz, Desmond. / Autoimmunity predominates in a large South African cohort with addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201. In: Clinical Endocrinology. 2010 ; Vol. 73, No. 3. pp. 291-298.
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abstract = "Objective We sought to determine whether autoimmunity is the predominant cause of Addison's disease in South Africa and whether human leucocyte antigen (HLA) DQ association exists. Design We compiled a national registry of patients from primary care, referral centres and private practices. Patients A total of 144 patients, 94 of European descent, 34 Mixed Ancestry, 5 Asian and 11 Black Africans (mean age 45·9 years, range 2·7-88 years; mean duration of disease 13·1 years, range 0-50 years) and controls were matched for gender and ethnicity. All potential causes were investigated. Results Fifty one per cent of cases (74 patients) were autoimmune in aetiology. Either 21-hydroxylase autoantibodies (72 patients, 50{\%} of entire patient group) or adrenocortical autoantibodies (35 patients, 24{\%}) were present, while 23{\%} of patients had both. None of the Asian (n = 5) or Black (n = 11) patients had evidence of autoimmune disease. Overall 8{\%} of patients had tuberculosis, 4{\%} adrenoleucodystrophy, 1{\%} adrenocorticotrophic hormone resistance syndrome and 6{\%} X-linked adrenal hypoplasia. In those with autoimmune disease primary hypothyroidism (47{\%}), premature ovarian failure (8{\%}) and type 1 diabetes (7{\%}) were the most prevalent accompanying autoimmune conditions. HLA DQB1*0201 alleles predominated in the autoimmune group (DQB1*0201: 65{\%}vs 43{\%} of controls P = 0·017) with the *0201/*0302 heterozygous genotype being the most prevalent (28{\%}vs 8{\%}P = 0·02). Conclusions While autoimmunity accounts for at least half of patients with Addison's disease in South Africa and is associated with HLA DQB1*0201, none of the Black Africans or Asians in this cohort had adrenal autoantibodies. Moreover, 21-hydroxylase autoantibodies were detectable in a higher proportion than adrenocortical autoantibodies, especially in those patients with a long history after disease onset.",
author = "Ian Ross and Andrew Boulle and Steven Soule and Naomi Levitt and Fraser Pirie and Anders Karlsson and Japie Mienie and Ping Yang and Hongjie Wang and Jin-Xiong She and William Winter and Desmond Schatz",
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T1 - Autoimmunity predominates in a large South African cohort with addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201

AU - Ross, Ian

AU - Boulle, Andrew

AU - Soule, Steven

AU - Levitt, Naomi

AU - Pirie, Fraser

AU - Karlsson, Anders

AU - Mienie, Japie

AU - Yang, Ping

AU - Wang, Hongjie

AU - She, Jin-Xiong

AU - Winter, William

AU - Schatz, Desmond

PY - 2010/9/1

Y1 - 2010/9/1

N2 - Objective We sought to determine whether autoimmunity is the predominant cause of Addison's disease in South Africa and whether human leucocyte antigen (HLA) DQ association exists. Design We compiled a national registry of patients from primary care, referral centres and private practices. Patients A total of 144 patients, 94 of European descent, 34 Mixed Ancestry, 5 Asian and 11 Black Africans (mean age 45·9 years, range 2·7-88 years; mean duration of disease 13·1 years, range 0-50 years) and controls were matched for gender and ethnicity. All potential causes were investigated. Results Fifty one per cent of cases (74 patients) were autoimmune in aetiology. Either 21-hydroxylase autoantibodies (72 patients, 50% of entire patient group) or adrenocortical autoantibodies (35 patients, 24%) were present, while 23% of patients had both. None of the Asian (n = 5) or Black (n = 11) patients had evidence of autoimmune disease. Overall 8% of patients had tuberculosis, 4% adrenoleucodystrophy, 1% adrenocorticotrophic hormone resistance syndrome and 6% X-linked adrenal hypoplasia. In those with autoimmune disease primary hypothyroidism (47%), premature ovarian failure (8%) and type 1 diabetes (7%) were the most prevalent accompanying autoimmune conditions. HLA DQB1*0201 alleles predominated in the autoimmune group (DQB1*0201: 65%vs 43% of controls P = 0·017) with the *0201/*0302 heterozygous genotype being the most prevalent (28%vs 8%P = 0·02). Conclusions While autoimmunity accounts for at least half of patients with Addison's disease in South Africa and is associated with HLA DQB1*0201, none of the Black Africans or Asians in this cohort had adrenal autoantibodies. Moreover, 21-hydroxylase autoantibodies were detectable in a higher proportion than adrenocortical autoantibodies, especially in those patients with a long history after disease onset.

AB - Objective We sought to determine whether autoimmunity is the predominant cause of Addison's disease in South Africa and whether human leucocyte antigen (HLA) DQ association exists. Design We compiled a national registry of patients from primary care, referral centres and private practices. Patients A total of 144 patients, 94 of European descent, 34 Mixed Ancestry, 5 Asian and 11 Black Africans (mean age 45·9 years, range 2·7-88 years; mean duration of disease 13·1 years, range 0-50 years) and controls were matched for gender and ethnicity. All potential causes were investigated. Results Fifty one per cent of cases (74 patients) were autoimmune in aetiology. Either 21-hydroxylase autoantibodies (72 patients, 50% of entire patient group) or adrenocortical autoantibodies (35 patients, 24%) were present, while 23% of patients had both. None of the Asian (n = 5) or Black (n = 11) patients had evidence of autoimmune disease. Overall 8% of patients had tuberculosis, 4% adrenoleucodystrophy, 1% adrenocorticotrophic hormone resistance syndrome and 6% X-linked adrenal hypoplasia. In those with autoimmune disease primary hypothyroidism (47%), premature ovarian failure (8%) and type 1 diabetes (7%) were the most prevalent accompanying autoimmune conditions. HLA DQB1*0201 alleles predominated in the autoimmune group (DQB1*0201: 65%vs 43% of controls P = 0·017) with the *0201/*0302 heterozygous genotype being the most prevalent (28%vs 8%P = 0·02). Conclusions While autoimmunity accounts for at least half of patients with Addison's disease in South Africa and is associated with HLA DQB1*0201, none of the Black Africans or Asians in this cohort had adrenal autoantibodies. Moreover, 21-hydroxylase autoantibodies were detectable in a higher proportion than adrenocortical autoantibodies, especially in those patients with a long history after disease onset.

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