PNH identified as likely cause of stroke for man in his early 20s
Student in India had a history of anemia, problems with blood flow
Paroxysmal nocturnal hemoglobinuria (PNH) was identified as the likely cause of a stroke in a young man, according to a report from India.
While high blood pressure and atherosclerosis, a condition marked by the buildup of fatty deposits inside arteries, are commonly associated with stroke, this case “sheds light on the less-explored connection between PNH and strokes in young adults, emphasizing the need to unravel these seemingly unrelated conditions for enhanced diagnostic precision and improved management,” the researchers wrote.
The case was described in the report, “Unraveling the Mysteries: Paroxysmal Nocturnal Hemoglobinuria and Its Unexpected Link to Stroke in Young Adult,” published in the Journal of the Association of Physicians of India.
PNH raises a person’s risk of blood clots forming that can block vessels
A rare disease, PNH most often is due to mutations that cause the uncontrolled activation of the complement system, a part of the immune system, leading to the destruction of blood cells. This causes anemia (low red blood cell count), and increases the risk of blood clot formation.
Evidence indicates that between 29% and 44% of individuals with PNH experience at least one clotting event in their lifetime.
Scientists at the Indira Gandhi Institute of Medical Sciences in Patna described the case of a man in his early 20s who developed a stroke and later was diagnosed with PNH.
The man, a student, had a history of recurrent blood transfusions due to anemia. He recently had undergone abdominal surgery for mesenteric ischemia, which happens when there is a reduction or blockage of blood flow to the intestines.
He came to a hospital’s emergency department due to weakness in the right side of his body, speech impairment, and seizure-like activity that had been lasting over two days. He was unconscious and nonresponsive on examination, pale, and showing signs of neurological deficits affecting his right side.
An urgent brain CT scan was performed, and he was admitted to the intensive care unit for further evaluation and management. Neurosurgical consultation also was sought.
The CT scan showed he had had an ischemic stroke — one due to a blood clot — in a key brain artery, and a brain scan the next day revealed additional strokes affecting the same region.
Although there was a slight improvement in his condition on the third day, he worsened by day six and started having seizures.
Tests confirmed a PHN diagnosis while man was hospitalized
After a neurosurgical consultation, a decompressive craniotomy was planned. This surgical procedure is used to relieve increased pressure inside the brain due to swelling, bleeding, or other causes. It involves removing a portion of the skull to allow the swollen brain to expand without being compressed.
By day eight, his condition again improved and seizures were under control. The patient then received a blood transfusion for his anemia. Motor function began to improve several days later.
Lab work performed during his hospitalization showed several abnormalities, which prompted further work, including flow cytometry, that ultimately confirmed the diagnosis of PNH.
The patient was discharged after being able to respond to verbal stimuli, and he was started on anticoagulant therapy to prevent blood clot formation. He was followed regularly for two weeks, and then advised to visit a hematology center for further follow-up.
“The significance of recognizing key signs and symptoms leading to the diagnosis of rare hematological [blood-related] conditions is underscored, with a call to action for healthcare providers to remain vigilant in diverse clinical scenarios,” the scientists wrote.
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