Epidemiology

Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO,
USA. richard.spritz@uchsc.edu
Generalized vitiligo is an autoimmune disorder characterized by acquired white patches of skin
and overlying hair, the result of loss of melanocytes from involved areas. The most common
disorder of pigmentation, vitiligo occurs with a frequency of 0.1-2.0% in various populations.
Family clustering of cases is not uncommon, in a non-Mendelian pattern suggestive of
multifactorial, polygenic inheritance. We surveyed 2624 vitiligo probands from North America
and the UK regarding clinical characteristics, familial involvement, and association with other
autoimmune disorders, the largest such survey ever performed. More than 83% of probands
were Caucasians, and the frequency of vitiligo appeared approximately equal in males and
females. The frequency of vitiligo in probands' siblings was 6.1%, about 18 times the
population frequency, suggesting a major genetic component in disease pathogenesis.
Nevertheless, the concordance of vitiligo in monozygotic twins was only 23%, indicating that a
non-genetic component also plays an important role. Probands with earlier disease onset
tended to have more relatives affected with vitiligo, suggesting a greater genetic component in
early onset families. The frequencies of six autoimmune disorders were significantly elevated in
vitiligo probands and their first-degree relatives: vitiligo itself, autoimmune thyroid disease
(particularly hypothyroidism), pernicious anaemia, Addison's disease, systemic lupus
erythematosus, and probably inflammatory bowel disease. These associations indicate that
vitiligo shares common genetic aetiologic links with these other autoimmune disorders. These
results suggest that genomic analysis of families with generalized vitiligo and this specific
constellation of associated autoimmune disorders will be important to identify the mechanisms
of genetic susceptibility to autoimmunity.

The prevalence of vitiligo was 0.38% in 47,033 people in a representative region in Denmark.
Both sexes were equally affected. No significant difference was found in the distribution of 179
patients with vitiligo among five municipalities or between urban and rural districts. The age-
specific prevalence increased from 0.09% under the age of 10 years to 0.90% in the age group
60 to 69 years. After the age of 70, the prevalence declined. This fall might reflect an increased
incidence of vitiligo during the past few decades. The number of new cases of vitiligo increased
steadily with advancing age, its onset being most often between the ages of 40 and 60 years. It
is assumed that the prevalence of vitiligo in Denmark applies also to the northwestern part of
Europe.