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The first case of HE was described by Brain et al. in 1966. [10] The patient was a 48-year-old man with hypothyroidism, multiple episodes of encephalopathy, stroke-like symptoms, and Hashimoto's thyroiditis confirmed by elevated antithyroid antibodies.
The condition has been linked with genetic mutations in genes that code for certain ion channels that transport electrolytes (sodium and potassium) across cell membranes. The main ones are the L-type calcium channel α1-subunit [ 1 ] and potassium inward rectifier 2.6 ; [ 3 ] it is therefore classified as a channelopathy . [ 3 ]
Blood tests of thyroid functions including TSH, T4 and T3 are usually normal [3] Ultrasonographic examination often shows the abscess or swelling in thyroid; Gallium scan will be positive; Barium swallow will show fistula connection to the piriform sinus and left lobe; Elevated white blood cell count [3] Elevated erythrocyte sedimentation rate [3]
The diagnosis of hyperthyroidism is confirmed by blood tests that show a decreased thyroid-stimulating hormone (TSH) level and elevated T 4 and T 3 levels. TSH is a hormone made by the pituitary gland in the brain that tells the thyroid gland how much hormone to make. When there is too much thyroid hormone, the TSH will be low.
Stress suppresses TSH, [5] and alterations in thyroid hormone levels may arise in psychiatric illness. In major depressive disorder, an NTIS-like phenotype may be observed, with reduced T3 and increased rT3. T4 may be elevated, and TSH is usually normal, although TSH's normal circadian rhythm may be disrupted. [2]
If elevated, it signifies hypothyroidism. [52] The elevation is usually a marked increase over the normal range. [13] TSH is the preferred initial test of thyroid function as it has a higher sensitivity to changes in thyroid status than free T 4. [64] Biotin can cause this test to read "falsely low". [21]
Free T4 and total T3 can be measured when hyperthyroidism is of high suspicion as it will improve the accuracy of the diagnosis. Free T4, total T3 or both are elevated and serum TSH is below normal in hyperthyroidism. If the hyperthyroidism is mild, only serum T3 may be elevated and serum TSH can be low or may not be detected in the blood. [14]
A suppressed TSH could represent the hyperthyroid phase, but warrants further testing to investigate for possible Graves' disease. [6] A normal TSH with persistent symptoms could represent the shift between phases and requires repeat testing 4–6 weeks later; an elevated TSH at this time could indicate the hypothyroid phase. [6]