Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review.
Asmaa YusufOmar AlhajAfra AldaheriAisha AlShamsiMozah AlMarshoodiFatima AlKindiFarooqi MohammedRaya AlmazroueiPublished in: Journal of investigative medicine high impact case reports (2023)
Porphyrias, particularly acute intermittent porphyria (AIP), are rare, inherited disorders of heme synthesis. On the other hand, systemic lupus erythematosus (SLE) is an uncommon autoimmune disease that affects women predominantly. The coexistence of AIP and SLE is rare. We report a case of concomitant diagnosis of AIP and SLE in a 21-year-old woman who presented with recurrent acute abdominal, chest, and back pain associated with nausea and vomiting, followed by arthralgia, multiple joint pain, and rash. Investigations revealed severe hyponatremia related to SIADH (syndrome of inappropriate antidiuretic hormone secretion) with a positive SLE antibody panel and a positive urine screen for porphobilinogen. Molecular test confirmed the diagnosis of AIP with a pathogenic mutation in the HMBS gene.
Keyphrases
- systemic lupus erythematosus
- disease activity
- liver failure
- drug induced
- respiratory failure
- rheumatoid arthritis
- high intensity
- type diabetes
- high throughput
- hepatitis b virus
- early onset
- heart failure
- extracorporeal membrane oxygenation
- pain management
- skeletal muscle
- multiple sclerosis
- pregnancy outcomes
- genome wide
- pregnant women
- single cell
- neuropathic pain
- african american