Classic paroxysmal nocturnal haemoglobinuria presenting with intestinal malabsorption syndrome, acute abdomen and acute kidney injury.
Gastroenterology
Haematology (incl blood transfusion)
Malabsorption
Pathology
Thrombosis
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
07 Mar 2024
07 Mar 2024
Historique:
pmc-release:
07
03
2026
medline:
11
3
2024
pubmed:
8
3
2024
entrez:
7
3
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38453232
pii: 17/3/e258785
doi: 10.1136/bcr-2023-258785
pmc: PMC10921495
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.