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
- abdominal pain
- acute kidney injury
- atrial fibrillation
- respiratory failure
- blood pressure
- obstructive sleep apnea
- pulmonary embolism
- aortic dissection
- drug induced
- risk factors
- computed tomography
- sleep apnea
- catheter ablation
- cardiac surgery
- image quality
- coronary artery
- magnetic resonance imaging
- single cell
- contrast enhanced
- intensive care unit
- binding protein
- dual energy
- risk assessment
- mechanical ventilation
- pet ct