Name
AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE-3
DESCRIPTION
DETAIL
IN APS TYPE-3, AUTOIMMUNE THYROIDITIS OCCUR WITH ANOTHER ORGAN SPECIFIC AUTOIMMUNE DISEASE. CLASSIFIED IN 3 SUBCATEGORIES : 1. APS TYPE-3A - AUTOIMMUNE THYROIDITIS WITH IMMUNE MEDIATED DIABETES MELLITUS TYPE 1 2. APS TYPE-3B - AUTOIMMUNE THYROIDITIS WITH PERNICIOUS ANEMIA 3. APS TYPE-3C - AUTOIMMUNE THYROIDITIS WITH VITILIGO &/OR ALOPECIA &/OR OTHER ORGAN SPECIFIC AUTOIMMUNE DISEASE APS TYPE-3 IS ASSOCIATED WITH FOLLOWING DISEASES : 1. ORGAN SPECIFIC AUTOIMMUNE DISEASES - CELIAC DISEASE - HYPOGONADISM - MYASTHENIA GRAVIS 2. ORGAN NONSPECIFIC OR SYSTEMIC AUTOIMMUNE DISEASES - SARCOIDOSIS - SJOGREN SYNDROME - RHEUMATOID ARTHRITIS 3. OTHER DISEASES - GASTRIC CARCINOID TUMOR - MALABSORPTION DUE TO EXOCRINE PANCREATIC DEFICIENCY - AUTOIMMUNE LEUKOPENIA*ANTI-PARIETAL CELL & ANTI-INTRINSIC FACTOR ANTIBODIES - PRESENT IN PERNICIOUS ANEMIA * THYROID ANTIBODIES ( TPO ) - PRESENT IN HASHIMOTO OR ATROPHIC THYROIDITIS * CYTOPLASMIN ISLET CELL ANTIBODIES, GLUTAMIC ACID DECARBOXYLASE OR ISLET CELL ANTIBODIES - PRESENT IN TYPE-1 DIABETES PRESENTATION IN VITILIGO - ANTIMELANOCYTE ANTIBODIES ARE PRESENT OTHER TESTS : * SIGNIFICANT MACROCYTOSIS - MCV > 100 , RETICULOCYTE COUNT- LOW . * PERIPHERAL SMEAR - MARKED ANISOCYTOSIS, POIKILOCYTOSIS, MACROOVALOCYTES, SOME BASOPHILIC STIPPLING & OCCASIONAL NUCLEATED RBC. NUTROPHILS SHOW HYPERSEGMENTATION OF NUCLEUS - CHARACTERISTIC FINDING * SERUM B 12 LEVELS - VERY LOW * MEASUREMENT OF RBC FOLATE LEVELS - MORE DIAGNOSTIC * GENETIC TESTING - MUTATION IN THE HLA-D GENE SHOULD BE ANALYSED IN PT & SIBLINGS. HLA-DR OLIGOTYPING & HLA-DQ OLIGOTYPING BY PCR METHOD.
TYPENOTES
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
TSH, ANTI-THYROGLOBULIN ANTIBODIES, COMPLETE BLOOD COUNT, ANTI-THYROID PEROXIDASE ANTIBODIES TEST(TPO)