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
- drug induced
- risk factors
- aortic dissection
- sleep apnea
- cardiac surgery
- sleep quality
- computed tomography
- coronary artery
- catheter ablation
- image quality
- magnetic resonance imaging
- inferior vena cava
- physical activity
- risk assessment
- amino acid
- protein protein
- intensive care unit
- climate change
- contrast enhanced
- depressive symptoms
- extracorporeal membrane oxygenation
- small molecule
- small bowel