Treatment with hemin delays dialysis, slows kidney decline in woman with AIP
Iron-containing med also cut porphyria attacks for patient, 50, in Japan
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Treatment with hemin — an iron-containing medication derived from red blood cells — effectively reduced the frequency of symptomatic attacks in a middle-aged woman with acute intermittent porphyria (AIP), and also mitigated a decline in her kidney function.
According to the researchers, the use of hemin, sometimes prescribed for porphyria related to the menstrual cycle in women, helped delay the need for starting dialysis for this patient, who was also experiencing widespread pain, among other symptoms. Despite her recurrent attacks, the woman was not diagnosed with AIP until after multiple hospitalizations.
Although she ultimately developed end-stage kidney disease, the scientists noted that treatment with hemin both slowed its progression and eased the woman’s AIP attacks, while putting off dialysis initiation.
“This case highlights the importance of an early diagnosis and appropriate treatment for AIP to delay or prevent the need for dialysis,” the team wrote.
Case details were described in a study titled “A Delayed Progression of Porphyria-Associated Kidney Disease After Hemin Therapy in a Patient with Acute Intermittent Porphyria: A Case Report,” which was published in the journal Internal Medicine.
A rare condition, AIP is caused by a deficiency of the enzyme porphobilinogen deaminase, which disrupts the production of heme, a molecule that helps the protein hemoglobin carry oxygen throughout the body. The condition results in a toxic buildup of intermediate molecules called porphyrins and their precursors, causing primarily severe abdominal pain, nausea, and dark-colored urine, with potential injury to multiple organs, including the kidneys.
AIP patient hospitalized 6 times before diagnosis
This case report described a 50-year-old woman in Japan who was treated for severely high blood pressure, widespread pain — including severe abdominal pain — and reduced consciousness. Blood tests showed elevated creatinine, a marker of kidney function, and low sodium.
A brain MRI revealed a condition called posterior reversible encephalopathy syndrome (PRES), which is a form of brain swelling linked to very high blood pressure. The woman’s low sodium improved on its own, and she was treated for high blood pressure, the researchers noted.
Six months later, a kidney biopsy showed scarring and hardening of kidney tissue, called nephrosclerosis, with thickening of blood vessel walls, known as arteriosclerosis, and shrinkage of the kidney’s filtering tubes, or tubular atrophy. Still, no specific cause was identified at that time.
Over the next five years, the woman was hospitalized five more times with similar episodes of pain, high blood pressure, and low sodium, often triggered by her menstrual cycle, seasonal changes, or stormy weather. With each hospitalization, her kidney function worsened.
AIP was finally diagnosed when doctors noticed her urine was persistently dark red and tested positive for urobilinogen, a pigment normally present in small amounts. Testing for urinary porphyrin precursors confirmed markedly elevated levels.
At that point, genetic testing identified a mutation in the HMBS gene, which encodes the enzyme porphobilinogen deaminase.
The woman received treatment with hemin, given intravenously, or into the vein. That eased her pain “dramatically,” according to the team.
Before the diagnosis, the woman’s estimated glomerular filtration rate (eGFR), a measure of how well the kidneys filter waste, had been declining, with repeated episodes of acute kidney injury. After hemin therapy was started, the decline in eGFR slowed, and a single acute episode of kidney dysfunction was observed, the researchers noted.
Woman’s kidney function continued to decline over time
Despite that initial improvement, the woman’s kidney function continued to decline gradually, according to the case report.
She eventually reached end-stage kidney disease, the point at which the kidneys can no longer function adequately on their own.
Seven years after her diagnosis, she began dialysis. She received one course of hemin therapy before dialysis began.
Hemin treatment continued to effectively reduce porphyric attacks even after dialysis was started, the researchers noted.
Our AIP patient clearly illustrated that hemin administration, a specific therapy for AIP, effectively reduced the frequency of acute attacks and mitigated the decline in kidney function, thereby delaying dialysis initiation.
According to the researchers, this case suggests that treatment with hemin can provide benefits for people with porphyria.
“Our AIP patient clearly illustrated that hemin administration, a specific therapy for AIP, effectively reduced the frequency of acute attacks and mitigated the decline in kidney function, thereby delaying dialysis initiation,” the team concluded.
The scientists suggested that “clinicians should consider AIP in patients with unexplained recurrent abdominal pain and hypertension to ensure appropriate treatment.”
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