Rare Diseases Symptoms Automatic Extraction

A cholestatic diagnostic dilemma.

[benign recurrent intrahepatic cholestasis]

A 28-year-old man with hereditary spherocytosis presented with abdominal pain and jaundice. He had severe, mainly conjugated (642 μmol/l), hyperbilirubinaemia (1033 μmol/l), with elevated liver enzymes: alkaline phosphatase (ALP) (163 IU/l), γ-glutamyltransferase (gGT) (277 IU/l) and aspartate transaminase (AST) (358 IU/l). Abdominal ultrasound and magnetic resonance cholangiopancreatography (MRCP) showed gallstones in the gallbladder but an absence of biliary duct dilation. Liver biopsy was consistent with cholestasis but showed no large duct obstruction. The cause of the cholestasis was unclear, was it a primary intrahepatic pathology or secondary to a posthepatic cause? He presented with similar symptoms days later with gallstones in the bile duct (choledocholithiasis) and underwent endoscopic retrograde cholangiopancreatography (ERCP) and cholecystectomy. This report guides one through the assessment of jaundice and serves as an example whereby the diagnosis of a common cause of illness is blurred by an atypical clinical presentation and relevant comorbidities. A diagnosis of benign recurrent intrahepatic cholestasis (BRIC) is also considered.

Diseases presenting "abdominal pain" symptom

  • 22q11.2 deletion syndrome
  • adrenal incidentaloma
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • focal myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma

This symptom has already been validated