[The polyglandular autoimmune syndrome--quality of life and family clustering]

For patients with polyglandular autoimmune syndrome (PGA), data pertaining to familial clustering and quality of life are missing. Therefore, we performed a prospective and controlled study to collect this information.

Clinical and serological evaluation of 75 consecutively recruited patients with PGA (mean age 47,5 ± 15,3 years; 65,3% women) and their 108 relatives (mean age 33,13 ± 20,08 years; 65,7% women) was performed. Three validated questionnaires for psychosocial evaluation (quality of life short form 36 [SF-36], hospital anxiety and depression scale [HADS] and the Gießener Beschwerdebogen [GBB]) were answered by patients and relatives.

47 (62%) patients with PGA had type 1 diabetes and autoimmune thyroid disease. 56 (52%) of their relatives had an autoimmune disease whereas Hashimoto's thyroiditis and type-A-gastritis were the most prevalent endocrine and non-endocrine components. Thyroid peroxidase autoantibodies were most prevalent in patients and involved relatives. Compared to a German reference group, all scales of the SF-36 were markedly decreased in patients and involved relatives (p < 0.001). Anxiety and depression scales were pathologically increased in patients and relatives (p < 0.001). Also, all GBB scales were elevated for patients and relatives (p < 0.001). Patients with both glandular and non-glandular autoimmune diseases showed the most pathological psychosocial results.

Familial clustering is high in patients with PGA. Quality of life and psychosocial status are poor in patients and involved relatives. Multidisciplinary management of the multiplex families in specialized centers is warranted.