Systemic Lupus Erythematosus Overlaid Acute Intermittent Porphyria

Andrade, Thais Miranda da Silva de; Effting, Ana Cristina Martins; Lückmann, Luan Felipe; Aragão, Salun Coelho; Paiva, Eduardo S.

doi:10.5151/sbr2019-270

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2023

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“…2 While SLE is relatively uncommon and AIP is relatively rare, the coexistence of AIP and SLE is an exceptionally rare with only few cases reported in the literature. [3][4][5] The age-standardized prevalence of SLE among emirates was estimated to be 103/100 000 population (95% confidence interval: 84.5-124.4). 6 However, there is no available local data on AIP prevalence.…”

Section: Introductionmentioning

confidence: 99%

Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review

Yusuf,

Alhaj,

Aldaheri

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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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.

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