Introduction: Polyglandular autoimmune syndrome (PAS) is a syndrome that is characterized by the association of two or more organ specific autoimmune disorders. Collagenous mucosal inflammatory diseases involve the columnar-lined gastric and intestinal mucosa. The coexistence of the two disease has not been reported. We have encountered a patient with a rare combination of autoimmune thyroiditis, hypoparathyroidism, primary ovarian failure and collagenous sprue. To our knowledge this is the first case of collagenous sprue in association with polyglandular syndromes in the literature.
Case report: A 32-year-old woman was admitted to our out patient clinic with weakness, myalgia, muscle cramps and carpopedal spasm. Her past medical history included diarrhea since 1 year and she had the diagnosis of primary amenorrhea since 15 years. Laboratory investigations revealed hypocalcemia, hypopotasemia, hypophosphatemia. Hematologic tests revealed anemia. Parathyroid hormone was low. The patient had hypothyroidism. Anti TG antibody and anti TPO antibodies were high. Morning cortisole level was 18 μg. ACTH stimulation test could not be done. Upper gastrointestinal endoscopy and histological examination revealed celiac disease and the patient was diagnosed as gluten enteropathy. She had no response to the medications, gluten free diet, her clinical course deteriorated with worsening malabsorption, diarrhea, and weight loss. Second endoscopic examination pathology of the doudenum revealed collagenous sprue. The patient died 4 days after the initialization of steroid therapy.
Conclusion: Collagenous sprue must be considered in patients who have polyglandular endocrinopathy with resistant diarrhea to avoid life threatening complications. The presence of other immune-related diseases in this case also suggests that an immunological mechanism may play a causative role in collagenous sprue. This is important and must be kept in mind.
30 Apr - 04 May 2011
European Society of Endocrinology