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
- pulmonary embolism
- blood pressure
- obstructive sleep apnea
- drug induced
- risk factors
- aortic dissection
- computed tomography
- cardiac surgery
- sleep apnea
- sleep quality
- catheter ablation
- coronary artery
- magnetic resonance imaging
- extracorporeal membrane oxygenation
- amino acid
- inferior vena cava
- contrast enhanced
- image quality
- small bowel
- human health
- risk assessment
- depressive symptoms
- magnetic resonance
- positron emission tomography