Classic paroxysmal nocturnal haemoglobinuria presenting with intestinal malabsorption syndrome, acute abdomen and acute kidney injury.
Rajdeep PorelAnjani KumarSurabhi AjitVishnu Shankar OjhaRatnadeep BiswasPublished in: BMJ case reports (2024)
A male patient in his 30s presented with complaints of acute abdominal pain, black stools and red-coloured urine. CT revealed thrombi in the splenic and left renal veins, leading to infarctions. An endoscopy displayed scalloping of the duodenal folds, indicative of intestinal malabsorption syndrome (IMS). Histopathological examination confirmed IMS. Due to the presence of intravascular haemolysis, haemoglobinuria and thrombotic complications, paroxysmal nocturnal haemoglobinuria (PNH) was suspected and subsequently confirmed by flow cytometry. Thus, a diagnosis of classic PNH with IMS and thrombotic complications was established. This unique case highlights the coexistence of PNH and IMS, resembling the complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy disease, suggesting potential shared pathophysiology.
Keyphrases
- case report
- flow cytometry
- liver failure
- acute kidney injury
- abdominal pain
- respiratory failure
- atrial fibrillation
- blood pressure
- pulmonary embolism
- obstructive sleep apnea
- drug induced
- risk factors
- computed tomography
- sleep apnea
- aortic dissection
- sleep quality
- hepatitis b virus
- magnetic resonance imaging
- single cell
- contrast enhanced
- catheter ablation
- positron emission tomography
- extracorporeal membrane oxygenation
- depressive symptoms
- physical activity
- image quality
- protein protein
- dual energy
- inferior vena cava
- human health
- binding protein
- mechanical ventilation