Gilbert syndrome

Description

Initially described by Augustin Gilbert (1900–1901) as “Cholémie simple familiale” or “Cholémie physiologique” (simple familial cholaemia or physiological cholaemia) in which diagnosis was founded upon an essential familial trait, fundamental symptoms and secondary symptoms.

En revanche, le caractère familial, que notre premier travail avait mis en lumière et que nous avons appuyé d’une série de preuves, nous est de plus en plus apparu comme un des traits essentiels de cet état pathologique”

“On the other hand, the family character, which our first work had brought to light and which we supported with a series of proofs, appeared to us more and more as one of the essential features of this pathological state.”

Gilbert, 1901

Fundamental symptoms

“Les symplomes fondamentaux sont fournis par l’état du tégument et du sérum, plus rarement par celui des urines, ainsi que par l’état objectif du foie et de la rate.”

“The fundamental symptoms are furnished by the state of the integument (skin) and the serum, more rarely by that of the urine, as well as by the objective state of the liver and the spleen.”

Gilbert, 1901

Secondary symptoms

“Les symplomes secondaires, conséculifs à la cholémie familiale, dominent souvent le tableau clinique et attirent l’attention du malade et du médecin. Ils sont des plus variés et permettent de décrire, à la cholémie familiale, des /ormes prurigineuse, dyspeplique, neurasthénique, hystérique, rhumalismale, hémorrhagique, rénale, fébrile.”

“Secondary symptoms, consecutive to familial cholemia, often dominate the clinical picture and attract the attention of the patient and the physician. They are of the most varied and make it possible to describe, in familial cholemia, pruriginous, dyspeplic, neurasthenic, hysterical, rheumatic, hemorrhagic, renal, febrile forms.”

Gilbert, 1901

Later elaborated on by Jens Meulengracht, (1939) who described it as “icterus intermittens juvenilis” (Intermittent juvenile jaundice) and better identified precipitating causes and linked his case series with Gilbert’s work.

“Der Ikterus erstreckte sich über Dezennien, schwankte in seiner Intensität und wurde bei interkurrenten Erkrankungen deutlicher, z. B. nach Magen-Darmstörungen, kleinen Erkältungen, bei Überanstrengung, Schlaflosigkeit usw.”

“The icterus lasted for decades, fluctuated in intensity and became more evident in the case of intercurrent illnesses, e.g. after gastrointestinal disorders, small colds, over exertion, insomnia, etc.”

Meulengracht, 1939

Gilbert’s syndrome today is better known as a genetically inherited disorder. It classically follows an autosomal recessive inheritance, caused by a mutation of the UGT1A1 gene. This leads to a relative enzyme deficiency consequently reducing the individuals ability to conjugate bilirubin. Leading to a rise in unconjugated bilirubin which is pathognomonic. Often this causes a transient mild jaundice usually precipitated by medication, infection or alcohol.

History of Gilbert syndrome

1900 – Gilbert

1939 – Meulengracht

Associated Persons

• Augustin Nicolas Gilbert (1858–1927)
• Jens Einar Meulengracht (1887–1976)

Alternative names

• Meulengracht syndrome
• Gilbert-Meulengracht syndrome
• Gilbert-Lereboullet syndrome

References

• Gilbert A, Castaigne J, Lereboullet P. De l’ictère familial. Contribution à l’étude de la diathèse biliaire. Bulletins et mémoires de la Société médicale des hôpitaux de Paris. 1900; 17: 948-959
• Meulengracht E. Icterus intermittens juvenilis (chronischer intermittierender juveniler Subikterus). Berliner Klinische Wochenschrift. 1939; 18(4): 118-121
• Gilbert syndrome. Uptodate

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