Hypothyroidism’s many disguises: A clinical guide to atypical presentations

ABSTRACT

Hypothyroidism, one of the most prevalent endocrine disorders globally, is traditionally recognized by classical presentations including fatigue, weight gain, cold intolerance, and constipation. However, accumulating evidence reveals that hypothyroidism can manifest through a remarkably diverse spectrum of atypical presentations involving multiple organ systems, posing significant diagnostic challenges. This review explores unusual manifestations of primary hypothyroidism, examining their clinical recognition, underlying pathophysiology, incidence, relevant laboratory parameters, and management strategies. Atypical presentations encompass neurological (movement disorders, psychiatric disturbances, Hashimoto’s encephalopathy, pseudotumor cerebri, dementia-like syndrome), cardiovascular (cardiac tamponade, heart failure, arrhythmias, constrictive pericarditis), hematological (acquired von Willebrand disease, various anemias), dermatological (lichen myxedematosus, ichthyosis, palmoplantar keratoderma, isolated hypertrichosis), endocrine and metabolic (Van Wyk–Grumbach syndrome, acquired autoimmune Bartter syndrome, multicystic ovaries), musculoskeletal (hypokalemic paralysis, Kocher–Debré–Sémélaigne syndrome, Hoffman syndrome, polymyositis, slipped capital femoral epiphysis, rhabdomyolysis), gastrointestinal (acute ileus, sigmoid volvulus, ascites), respiratory (isolated unilateral pleural effusion), and ophthalmological (hypothyroid ophthalmopathy) manifestations, along with polyserositis. Early recognition with prompt levothyroxine therapy is crucial for preventing complications in the majority of cases. A multidisciplinary approach is often necessary for optimal management.