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04 November 2022: Articles

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand

Rare disease

Vachiravit Sriprakoon B , Chalisa Ittagornpunth B , Nakorn Puapaiboon C , Aekasit Bunyahathaipat C , Punnapat Piriyanon B , Sookkasem Khositseth D , Kitiwan Rojnueangnit A*

DOI: 10.12659/AJCR.937695

Am J Case Rep 2022; 23:e937695

Table 3. Comparing clinical manifestation of Arg173Trp variants in an acute attack.

Our studyGreene-Davis et al 1997 [19]Chen et al 2015 [21]Indika et al 2018 [12]Nunnemann et al 2020 [18]
CountryThailandCanadaChinese TaipeiSri LankaGermany
Age of the first diagnosis (years)1424393318
Inherited pathologic variantFrom her fatherFrom his mother
Presenting symptomsAbdominal pain, vomiting, hypertensive encephalopathyRecurrent abdominal pain with proximal muscle weaknessIntermittent severe abdominal pain, unexplained tachycardia, and acute nephritisAbdominal pain, vomiting and loss of weight with u/d of celiac disease
Duration after the first symptoms to get the diagnosis3 weeks2 years2 years (with 6 hospitalization)
Neurovisceral symptoms
Abdominal painPresentN/APresentPresentPresent
Hypertensive emergency
Muscle weaknessPresentN/APresentPresentPresent (severe to tetraplegia, and requiring ventilator support)
Rhabdomyolysis (CPK 48860 IU/L)
Hyponatremia (lowest Na level; mmol/L)Present (114)N/APresent (114)PresentN/A

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923