Autoimmune polyglandular syndrome type 3 with anorexia.

Area of Science:

• Endocrinology
• Gastroenterology
• Neurology

Background:

• Autoimmune polyglandular syndrome (APS) is a rare disorder characterized by autoimmune-mediated dysfunction of multiple endocrine glands.
• Pernicious anemia (PA) and type 1 diabetes mellitus (T1DM) are autoimmune conditions that can occur independently or as part of APS.
• Slowly progressive type 1 diabetes mellitus (SPIDDM) is a variant of T1DM with a gradual onset, often presenting in adulthood.

Purpose of the Study:

• To report a rare case of autoimmune polyglandular syndrome type 3 (APS-3) presenting with pernicious anemia (PA) and slowly progressive type 1 diabetes mellitus (SPIDDM).
• To highlight the importance of early diagnosis and treatment of cobalamin deficiency in patients with autoimmune diseases to prevent irreversible neurological damage.
• To emphasize the need for considering PA in diabetic patients with unexplained anorexia and macrocytosis.

Main Methods:

• Case report of a 71-year-old male patient.
• Clinical evaluation including history, physical examination, and laboratory tests (cobalamin levels, autoantibodies).
• Diagnostic workup for anemia, diabetes mellitus, and autoimmune conditions.

Main Results:

• The patient presented with anorexia, significant weight loss, and megaloblastic anemia.
• Laboratory findings revealed low cobalamin levels, positive intrinsic factor autoantibody, GAD autoantibody, ICA, and thyroid autoantibodies.
• Diagnosis of APS-3 with SPIDDM, PA, and Hashimoto's thyroiditis was established. Treatment with intramuscular cyanocobalamin improved his appetite.

Conclusions:

• This case underscores the rare co-occurrence of APS-3, PA, and SPIDDM.
• Prompt recognition and management of cobalamin deficiency are vital to avert potentially irreversible neurological sequelae like ataxia and dementia.
• Physicians should maintain a high index of suspicion for PA in diabetic patients exhibiting unexplained anorexia and macrocytosis.