Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report.
Channelopathies
Graves’ disease
Hyperthyroidism
Hypokalemia
Muscle weakness
Periodic episodes
Thyrotoxic periodic paralysis
Journal
Thyroid research
ISSN: 1756-6614
Titre abrégé: Thyroid Res
Pays: England
ID NLM: 101469037
Informations de publication
Date de publication:
01 May 2023
01 May 2023
Historique:
received:
21
10
2022
accepted:
04
03
2023
medline:
1
5
2023
pubmed:
1
5
2023
entrez:
30
4
2023
Statut:
epublish
Résumé
Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × 10 TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP.
Sections du résumé
BACKGROUND
BACKGROUND
Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias.
CASE PRESENTATION
METHODS
A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × 10
CONCLUSION
CONCLUSIONS
TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP.
Identifiants
pubmed: 37122018
doi: 10.1186/s13044-023-00152-w
pii: 10.1186/s13044-023-00152-w
pmc: PMC10150465
doi:
Types de publication
Journal Article
Langues
eng
Pagination
10Informations de copyright
© 2023. The Author(s).
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