Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis

Vendrame, Francesco; Verrienti, Antonella; Parlapiano, C; Dotta, Francesco

doi:10.1258/acb.2007.007117

Cited by 5 publications

(3 citation statements)

References 22 publications

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“…Only few cases of THPP have been described in non-Asian populations including the Italians 1–7. However, THPP is becoming more frequent in western countries because of immigration.…”

Section: Discussionmentioning

confidence: 99%

“…Because of the similarity with familial periodic paralysis, genetic studies have focused on mutations of genes involved in the familial paralysis, like calcium (CACN1AS), potassium (KCNE3) and sodium (SCN4A) channel genes. However, investigations have not yet clarified the role of such polymorphisms in the disease pathogenesis or genetic differences between Asians and Caucasians who suffer from this condition 3 7…”

Section: Discussionmentioning

confidence: 99%

“…Less commonly, hypokalaemic periodic paralysis is sporadic and can be associated with thyrotoxicosis 1. The latter syndrome is highly prevalent among Asian patients but can be encountered in non-Asian patients as well 1–7…”

Section: Introductionmentioning

confidence: 99%

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Hypokalaemia with paralysis: don't forget the thyroid

Catalano

Caridi²,

Postorino³

et al. 2011

Case Reports

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“…Only few cases of THPP have been described in non-Asian populations including the Italians 1–7. However, THPP is becoming more frequent in western countries because of immigration.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Hypokalaemia with paralysis: don't forget the thyroid

Catalano

Caridi²,

Postorino³

et al. 2011

Case Reports

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Thyrotoxic periodic paralysis: clinical and molecular aspects

2012

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Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism that most often affects young East Asian males but increasingly also in other ethnic groups. The typical presentation is acute attacks varying from mild weakness to total paralysis starting at night or in the early morning a few hours after a heavy meal, alcohol abuse or strenuous exercise with complete recovery within 72 h. Signs and symptoms of hyperthyroidism may not be obvious. The hallmark is hypokalemia from increased cellular sodium/potassium-ATPase pump activity with transport of potassium from the extracellular to the intracellular space in combination with reduced potassium output. Recently, KCNJ18 gene mutations which alter the function of an inwardly rectifying potassium channel named Kir2.6 have been detected in 0-33 % of cases. Hence, the pathophysiology in TPP includes a genetic predisposition, thyrotoxicosis and environmental influences and the relative impact from each of these factors may vary. The initial treatment, which is potassium supplementation, should be given with caution due to a high risk of hyperkalemia. Propranolol is an alternative first-line therapeutic option based on the assumption that hyperadrenergic activity is involved in the pathogenesis. If thyroid function tests are unobtainable in the acute situation the diagnosis is supported by the findings of hypokalemia, low spot urine potassium excretion, hypophosphatemia with hypophosphaturia, high spot urine calcium/phosphate ratio, and electrocardiographic abnormalities as tachycardia, atrial fibrillation, high QRS voltage, and atrioventricular block. Definitive treatment is cure of the hyperthyroidism. The underlying mechanisms of TPP remain, however, incompletely understood awaiting further studies.

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