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
- atrial fibrillation
- respiratory failure
- blood pressure
- pulmonary embolism
- obstructive sleep apnea
- aortic dissection
- drug induced
- risk factors
- computed tomography
- cardiac surgery
- sleep apnea
- coronary artery
- image quality
- catheter ablation
- single cell
- protein protein
- contrast enhanced
- magnetic resonance imaging
- positron emission tomography
- dual energy
- depressive symptoms