Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2007) 13 P114

Clinical practice/governance and case reports

Inheritance in autoimmune addison’s: the extended family profile

Katherine White1, John Wass2 & Alyson Elliott1


1Addison’s Disease Self-Help Group, Guildford, United Kingdom; 2Churchill Hospital, Oxford, United Kingdom.

Autoimmune hypoadrenalism (Addison’s disease) is a rare condition with a European prevalence of up to 140 per million1. It frequently occurs in association with other organ-specific autoimmune diseases, both endocrine and non-endocrine. These conditions are recognised to occur in the extended family, but their prevalence has been hard to determine, because of the rarity of the disease.

In 2003 we conducted the largest international survey of autoimmune hypoadrenalism to date (N=614). We asked patients to list all health conditions occurring in their extended family, including any apparently unrelated to their adrenal failure. Responses were compared to a well-matched control group (N=612).

The profile of associated conditions identified in males and females varied, reflecting the female predominance of autoimmune disease. The rate of maternal Addison’s was 1.7% (6 cases), compared to just 0.2% (1 case) of paternal Addison’s. Among grandparents, 0.9% of maternal grandmothers, 0.3% of paternal grandmothers; 0.2% of maternal and paternal grandfathers were reported to have Addison’s. Addison’s among siblings and children also showed a female preponderance: 3.4% of sisters and 2.8% of brothers; 1.2% of daughters and 0.8% of sons.

Hypothyroidism, Vitamin B12 deficiency and vitiligo were all found in the extended family. Hypothyroidism was reported in 19.2% of mothers, 4.3% of fathers, 9.4% of sisters, 3.7% of brothers, 5.8% of maternal grandmothers and 2% of paternal grandmothers. Vitamin B12 deficiency occurred in 5.4% of mothers, 2.8% of fathers, 2.6% of sisters and 1.4% of brothers. Vitiligo was reported in 1.7% of mothers, 1.4% of fathers, 2.6% of sisters and 1.1% of brothers.

These findings suggest that the immediate relatives of autoimmune Addison’s patients should be screened for the possible development of associated autoimmune conditions.

1 Lovas & Husebye 2002.

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