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 study | Greene-Davis et al 1997 [19] | Chen et al 2015 [21] | Indika et al 2018 [12] | Nunnemann et al 2020 [18] | |
|---|---|---|---|---|---|
| Country | Thailand | Canada | Chinese Taipei | Sri Lanka | Germany |
| Sex | Female | Female | Male | Male | Female |
| Age of the first diagnosis (years) | 14 | 24 | 39 | 33 | 18 |
| Inherited pathologic variant | From her father | From his mother | |||
| Presenting symptoms | Abdominal pain, vomiting, hypertensive encephalopathy | Recurrent abdominal pain with proximal muscle weakness | Intermittent severe abdominal pain, unexplained tachycardia, and acute nephritis | Abdominal pain, vomiting and loss of weight with u/d of celiac disease | |
| Duration after the first symptoms to get the diagnosis | 3 weeks | 2 years | 2 years (with 6 hospitalization) | ||
| Neurovisceral symptoms | |||||
| Seizure | Present | N/A | GTC | N/A | N/A |
| Confusion | Present | Present | |||
| Abdominal pain | Present | N/A | Present | Present | Present |
| Nausea/vomiting | Present | N/A | N/A | Present | Present |
| Constipation | Present | ||||
| Hypertensive emergency | |||||
| Muscle weakness | Present | N/A | Present | Present | Present (severe to tetraplegia, and requiring ventilator support) |
| Rhabdomyolysis (CPK 48860 IU/L) | |||||
| Hyponatremia (lowest Na level; mmol/L) | Present (114) | N/A | Present (114) | Present | N/A |