Jaundice (Icterus): Or something else? Differential Diagnosis

Diseases that may cause prehepatic jaundice:

Blood, hematopoietic organs-immune system (D50-D90).

  • Hemolytic anemias (anemia) such as spherocytosis (spherocytic cell anemia) or sickle cell anemia (med. : drepanocytosis; also sickle cell anemia, sickle cell anemia): genetic disease with autosomal recessive inheritance, which affects the erythrocytes (red blood cells); it belongs to the group of hemoglobinopathies (disorders of hemoglobin; formation of an irregular hemoglobin, the so-called sickle cell hemoglobin, HbS).
  • Sarcoidosis (synonyms: Boeck’s disease; Schaumann-Besnier’s disease) – systemic disease of connective tissue with granuloma formation.
  • Disorders in erythropoiesis (blood formation).

Diseases that can cause intrahepatic jaundice:

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Alagille syndrome – genetic disorder with autosomal dominant inheritance that is notable for hepatic bile duct malformations and other organ malformations; cholestasis (biliary obstruction) that causes jaundice even in the newborn; Typical facial abnormalities (broad forehead, deep-set eyes, hypertelorism/excessive interocular distance, narrow chin) and skeletal abnormalities (butterfly vertebrae, short distal phalanges, clinodactyly/lateral bending of one or more finger or toe limbs, shortened ulna/elbow).
  • Zellweger syndrome (cerebral-hepatic-renal syndrome, cerebro-hepato-renal syndrome ) – genetic metabolic disorder with autosomal recessive inheritance characterized by absence of peroxisomes (spherical membrane-bounded organelles); Syndrome with malformations of the brain, kidneys (multicystic kidney dysplasia), heart (especially ventricular septal defects), and hepatomegaly (enlargement of the liver); severe cognitive disability.

Certain conditions originating in the perinatal period (P00-P96).

  • Crigler-Najjar syndrome type 1 – neonatal icterus caused by the absence of a specific enzyme (glucuronyltransferase).
  • Dubin-Johnson syndrome – genetic disease with autosomal recessive inheritance, which lead to excretion disorders of bilirubin; direct hyperbilirubinemia (strong increase in bilirubin levels in the blood); typical is a mild jaundice without pruritus (jaundice without itching); macroscopic: black liver due to bilirubin pigment storage in the lysosomes (cell organelles).
  • Icterus neonatorum / Morbus hemolyticus neonatorum.

Endocrine, nutritional and metabolic diseases (E00-E90).

  • Hemochromatosis (iron storage disease) – genetic disease with autosomal recessive inheritance with increased deposition of iron as a result of increased iron concentration in the blood with tissue damage.
  • Meulengracht’s disease (Gilbert’s syndrome) – genetic disease with autosomal dominant inheritance; disorder of bilirubin metabolism; most common familial form of hyperbilirubinemia (increased occurrence of bilirubin in the blood); usually asymptomatic; during fasting further increase in bilirubin, which may lead to slightly yellowish eyes
  • Wilson’s disease (copper storage disease) – autosomal recessive inherited disease in which copper metabolism in the liver is disturbed by one or more gene mutations.
  • Cystic fibrosis (ZF) – genetic disease with autosomal recessive inheritance, characterized by the production of secretions in various organs to be tamed.
  • Rotor syndrome – genetic disease with autosomal recessive inheritance; hyperbilirubinemia; usually no symptoms except jaundice (icterus).

Infectious and parasitic diseases (A00-B99).

Liver, gallbladder and bile ducts – pancreas (pancreas) (K70-K77; K80-K87).

  • Budd-Chiari syndrome – thrombotic occlusion of the hepatic veins.
  • Hepatitis (liver inflammation) of any genesis.
  • Liver abscesses – encapsulated accumulation of pus in the liver.
  • Liver cirrhosis – irreversible damage to the liver leading to gradual connective tissue remodeling of the liver with limitation of liver function.
  • Byler disease (progressive familial intrahepatic cholestasis (PFIC)) – genetic disorder with autosomal recessive inheritance; cholestasis (biliary stasis) leading to biliary cirrhosis (gallbladder-related scarring shrinkage of the liver and loss of functional tissue).
  • Primary biliary cirrhosis – form of liver cirrhosis that occurs due to non-purulent bile duct inflammation; usually occurs in women
  • Sepsis (endotoxins) – “blood poisoning“.
  • Stasis liver
  • Summerskill-Tygstrup syndrome (idiopathic recurrent cholestasis/bile stasis) – genetic disorder with autosomal recessive inheritance; benign form of hyperbilirubinemia (elevated bilirubin in the blood) with intermittent intrahepatic occlusive icterus in children and young adults; Familial hyperbilirubinemia syndromes with elevation of direct bilirubin; jaundice (jaundice) in the sclerae (white part of the eye) and mucous membranes, with more severe occurrence also clear of the skin

Neoplasms – tumor diseases (C00-D48).

  • Liver metastases

Pregnancy, childbirth and puerperium (O00-O99)

Injuries, poisoning, and other sequelae of external causes (S00-T98).

  • Phenol exposure
  • Mushroom poisoning

Diseases that can cause posthepatic jaundice:

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Alagille syndrome – congenital disorder notable for hepatic bile duct malformations and other organ malformations.
  • Biliary atresia – congenital malformation describing the absence of bile ducts.
  • Idiopathic ductopenia – an anomaly of the bile ducts, the cause of which is unknown.

Infectious and parasitic diseases (A00-B99).

  • AIDS cholangiopathy – changes in the bile ducts caused by AIDS disease.
  • Parasitosis – parasites in the area of the bile ducts.
  • Tuberculosis (consumption)

Liver, gallbladder and bile ducts – pancreas (pancreas) (K70-K77; K80-K87).

  • Budd-Chiari syndrome (hepatic vein occlusion).
  • Cholangitis (inflammation of the bile duct)
  • Choledocholithiasis – gallstones in the common bile duct.
  • Liver cirrhosis – connective tissue remodeling of the liver with functional impairment.
  • Pancreatic pseudocysts – cystic formation in the area of the pancreas.
  • Pancreatitis (inflammation of the pancreas) – acute and chronic.
  • Papillary stenosis – narrowing of the confluence of the bile duct with the small intestine.
  • Pericholecystitis – inflammation of the gallbladder, which also infiltrates the surrounding tissue.
  • Primary sclerosing cholangitis – chronic inflammatory bile duct inflammation.
  • Strictures (narrowing) of the bile ducts

Neoplasms – tumor diseases (C00-D48)

  • Cholangiocellular carcinoma (bile duct cancer).
  • Pancreatic carcinoma (cancer of the pancreas)
  • Tumors in the area of the bile ducts

Other differential diagnostic considerations

  • Consumption of alcohol
  • Idiopathic postoperative jaundice – jaundice of unclear cause occurring after surgery.
  • Parenteral nutrition (via the vein) with fat overload.

Pseudoicterus

  • Excessive consumption of vegetables such as carrots, leafy vegetables, zucchini.
  • Excessive consumption of fruits such as oranges or peaches.
  • Condition after fluorescein angiography