Report highlights rare co-occurrence of AIP and lupus in woman, 21
Researchers urge prompt diagnosis to prevent long-term complications
A recent case report highlights the extremely rare occurrence of two diseases — acute intermittent porphyria (AIP) and systemic lupus erythematosus (SLE), an autoimmune disease — in a young woman who was eventually diagnosed through lab work, biopsies, and genetic testing.
The report adds to the limited body of knowledge about the occurrence of these two diseases together, and calls attention to “the importance of taking detailed clinical presentation and family history to reach the diagnosis as well as the need of a multidisciplinary approach in the care of these complex patients,” researchers wrote.
The report, “Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review,” was published in the Journal of Investigative Medicine High Impact Case Reports.
Presence of 2 diseases together ‘a unique diagnostic and management challenge’
AIP is a rare genetic disease characterized by the lack of an enzyme called porphobilinogen deaminase that’s needed for the production of heme — a molecule that helps red blood cells carry oxygen.
Consequently, heme precursors called porphyrins accumulate to toxic levels, leading to sudden and severe attacks primarily characterized by abdominal pain and sometimes by neurological changes.
SLE is a chronic autoimmune disease marked by the immune system’s misdirected attack on body tissues, causing damage to several organs in the body.
Given that neither disease is common, there is little data on how they might manifest when they co-exist in the same patient.
“The presence of the two conditions together presents a unique diagnostic and management challenge,” the researchers wrote, noting that the symptoms of each disease are not necessarily specific, and may overlap with each other or with those of other disorders.
Researchers have now reported the case of a 21-year-old woman from the United Arab Emirates who presented with both diseases.
She went to the hospital with moderate-to-severe abdominal pain and frequent episodes of vomiting that had lasted for the past six days. Other symptoms included very dark urine, and a skin rash over her elbows and knees, accompanied by joint pain.
Prompt diagnosis can ensure patient full recovery from acute AIP attack and prevent long-term complications.
A physical examination revealed she had dry mouth, abdominal tenderness, and skin lesions. The patient was also found to have severe hypoosmolar hyponatremia, a condition in which the ratio of sodium-to-water in the bloodstream is too low.
Under the suspicion that she was severely dehydrated with a condition causing an overproduction of a hormone that drives water retention, the woman was treated with into-the-vein saline over the next few days. However, she was exhibiting signs of confusion and fluctuating mental status before leaving the hospital against medical advice.
The patient returned two days later with severe abdominal pain, nausea, and vomiting. She was again found to have an electrolyte imbalance in her blood and was confused.
Her mother then reported that other members of the family, including the patient’s sister, father, and cousin, had experienced similar symptoms in the past few years.
Given this family history, doctors then suspected she may have some type of acute porphyria, most likely AIP, the most common type.
A few days later, the patient developed a backache and severe joint pain. Her skin lesions were spreading, and she began to experience light sensitivity.
An autoimmune screen and skin biopsies revealed the presence of antibodies and immune molecules consistent with an SLE diagnosis. She was treated with steroids, after which she saw “dramatic clinical improvement,” and was discharged from the hospital.
Follow-up tests came back positive for porphyrins in the urine, and genetic testing revealed a mutation in the HMBS gene, confirming the diagnosis of AIP. Her sister and cousin had the same mutation.
Co-existence of AIP and SLE is extremely rare
At the time of publication, the woman was tapering off steroids and using daily azathioprine, an immunosuppressant. She was educated about the symptoms and triggers of AIP attacks, and given hemin in case it was needed for future attacks. She remained attack-free at the time of the report.
The scientists noted that the co-existence of AIP and SLE is extremely rare, and has only been reported in 15 previous cases. Most of these involved female patients, ages 13-57, with the SLE diagnosis usually preceding the AIP diagnosis. The delay between the diagnosis of both diseases ranged from two days to 20 years in the reports.
“The … explanation for the association between SLE and porphyria is unknown,” the researchers wrote, noting that theories include a shared genetic component, autoimmunity that’s triggered by porphyria toxins, or a common metabolic defect.
Moreover, both AIP and SLE disease attacks might share common triggers, such as infection, hormonal changes, stress, or medications. Additionally, certain SLE medications, such as hydroxychloroquine, might actually worsen AIP.
Ultimately, “prompt diagnosis can ensure patient full recovery from acute AIP attack and prevent long-term complications,” the team wrote.
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