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Quincke's triad of upper abdominal pain, upper gastrointestinal haemorrhage and jaundice [2] is classical but only present in 22% cases. [3] It can be immediately life-threatening in major bleeding. However, in minor haemobilia, patient is haemodynamically stable despite significant blood loss being apparent. [3]
Many people never have symptoms. [1] Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) may occur. [1] Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme.
Around 80 to 99% of people with Dubin–Johnson syndrome have jaundice, [3] [4] abnormal urinary color, biliary tract abnormality, and conjugated bilirubinemia. [4] Around 30 to 79% of people with the disorder have abnormality of the gastric mucosa. [4] Other rare symptoms include fever and fatigue. [3]
These disorders may cause yellowing of the skin and eyes, called jaundice. [3] The prevalence of hereditary hyperbilirubinemia varies based on each disease. The most common being Gilbert syndrome which is found is 2-10% of the population. Other types of hereditary hyperbilirubinemia are less common and may even be exceedingly rare depending on ...
Neonatal jaundice is a yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels. [1] Other symptoms may include excess sleepiness or poor feeding. [1] Complications may include seizures, cerebral palsy, or kernicterus. [1] In most of cases there is no specific underlying physiologic disorder. [2]
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
Reye syndrome occurs almost exclusively in children. While a few adult cases have been reported over the years, these cases do not typically show permanent neural or liver damage. Unlike in the United Kingdom, the surveillance for Reye syndrome in the United States is focused on people under 18 years of age. [citation needed]
Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones. [6] Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof.