Plasma exchange helps to relieve teenager’s porphyria symptoms
5 plasmapheresis sessions given to 15-year-old with acute porphyria
Plasma exchange — a procedure that involves replacing the liquid portion of blood, not blood cells — effectively eased motor weakness and other symptoms for a teenager with acute porphyria.
Prior to this, standard approaches for treating porphyria, including hemin, were attempted but did little to ease the patient’s muscle weakness.
The study, “The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report,” was published in Cureus.
Progressive muscle weakness followed episode of abdominal pain, constipation
Porphyria is caused by defects in heme production, leading to a toxic buildup of porphyrins and their precursor molecules, which can cause such disease symptoms as sensitivity to sunlight, pain, gastrointestinal and urinary issues, as well as anxiety and confusion.
Scientists in Pakistan described the case of a 15-year-old boy who was treated at their hospital and ultimately diagnosed with acute porphyria.
About a year before being hospitalized, the boy had an episode of sudden abdominal pain and constipation, which was relieved with laxatives and enemas. A few days after this episode, he began to experience weakness in his legs.
The weakness started gradually, but it progressively worsened to the point that the teenager was no longer able to walk. The weakness also affected his arms, and the patient reported numbness in his lower legs and forearms.
Around the same time that weakness set in, the boy noticed he was passing reddish-brown urine, and family members reported that he was grouchier than usual. Over the next few months, he experienced recurring bouts of abdominal pain and constipation, and he also began to have seizures.
Upon examination in the hospital to better understand his muscle weakness, doctors found mixed sensory and motor polyneuropathy — in other words, damage to nerves needed for sensation and to nerves that control movement.
Plasma exchange helps to remove porphyrins from the blood
Tests for several other types of nerve damage were negative, and the patient’s red-colored urine raised suspicion of porphyria. Urine tests were positive for porphyrins, which together with elevated levels of an inflammation marker, confirmed the porphyria diagnosis.
“These investigations confirmed that the patient was suffering from acute porphyria, which was responsible for his abdominal and neuropsychiatric symptoms,” the investigators wrote.
Once the diagnosis was established, the patient started on treatment first with a sugar solution administered into the bloodstream, and then with hemin. The hemin treatment helped to ease his abdominal pain, but his weakness persisted.
The patient then underwent five sessions of plasma exchange, also called plasmapheresis. This procedure is done somewhat similarly to dialysis; it involves removing and replacing the parts of a patient’s blood that don’t contain blood cells. In porphyria, this can help to remove the porphyrins whose buildup drives disease symptoms.
Following plasma exchange, the patient regained strength in his legs; he also was less irritable and did not experience any further seizures.
“This case highlights the importance of plasmapheresis in the management of chronic polyneuropathy of porphyrias,” the researchers concluded. They noted a need for further investigation into the utility of plasma exchange as a porphyria treatment strategy.
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