Benign recurrent intrahepatic cholestasis

The benign recurrent intrahepatic cholestasis ( BRIC ) is a very rare cholestatic disease, also known by the Erstbeschreibern (1959) Summer Skill-Walshe-Tygstrup syndrome is known and is usually diagnosed only at an early age. A paper from 1987 mentions only 70 cases worldwide. The disease manifests itself through intermittent obstruction of the bile outflow from the liver with jaundice , but should not cause cirrhosis . Despite the lack of healing options so far, the long-term prognosis for those affected is therefore good.

root cause

The disease is automal recessive inherited . The underlying gene or protein defect is now known.

Finding

The examination reveals an increase in the bile acids in the blood. The bilirubin value also rises late to 50 mg / dl. The cholestasis values are also increased. The liver values ( transaminases ) are normal or only slightly increased.

complaints

Disturbances of the bile outflow with itching and jaundice exist . You may experience nausea , vomiting , diarrhea and loss of appetite . The disease progresses in phases. Symptoms-free periods of a few months up to years can occur. Pregnancy can trigger a flare-up.

therapy

You can see the discomfort caused by symptomatic drugs , such as itching or pain, relieve. A curative treatment is still not known. Ursodeoxycholic acid can possibly shorten the disease phases.

Sources and individual references

↑ C. Putterman, S. Keidar, JG Brook: Benign recurrent intrahepatic cholestasis - 25 years of follow-up. In: Postgraduate medical journal. Volume 63, Number 738, April 1987, pp. 295-296, ISSN 0032-5473 . PMID 3684838 . PMC 2428157 (free full text).
↑ G. Westermann, N. Lie ring, C. August, KH Rahn, K. Kisters: Classic case of benign recurrent Intrahepatic cholestasis (Summer Skill Halshe-Tygstrup syndrome). In: Medical Clinic (Munich, Germany: 1983). Volume 95, Number 6, June 2000, pp. 349-354, ISSN 0723-5003 . PMID 10935421 .
^ VA Luketic, ML Shiffman: Benign recurrent intrahepatic cholestasis. In: Clinics in liver disease. Volume 8, Number 1, February 2004, pp. 133-49, vii, ISSN 1089-3261 . doi : 10.1016 / S1089-3261 (03) 00133-8 . PMID 15062197 . (Review).
^ I. Nicolás, JA Pons, A. Vargas, F. Gallardo, A. Albaladejo, JM Nicolás: [Ursodeoxycholic acid treatment shortens the course of cholestasis in two patients with benign recurrent intrahepatic cholestasis]. In: Gastroenterología y hepatología. Volume 26, Number 7, 2003 Aug-Sep, pp. 421-423, ISSN 0210-5705 . PMID 12887856 .

[1] C. Putterman, S. Keidar, JG Brook: Benign recurrent intrahepatic cholestasis - 25 years of follow-up. In: Postgraduate medical journal. Volume 63, Number 738, April 1987, pp. 295-296, ISSN 0032-5473 . PMID 3684838 . PMC 2428157 (free full text).

[PMID10935421-2] G. Westermann, N. Lie ring, C. August, KH Rahn, K. Kisters: Classic case of benign recurrent Intrahepatic cholestasis (Summer Skill Halshe-Tygstrup syndrome). In: Medical Clinic (Munich, Germany: 1983). Volume 95, Number 6, June 2000, pp. 349-354, ISSN 0723-5003 . PMID 10935421 .

[PMID15062197-3] VA Luketic, ML Shiffman: Benign recurrent intrahepatic cholestasis. In: Clinics in liver disease. Volume 8, Number 1, February 2004, pp. 133-49, vii, ISSN 1089-3261 . doi : 10.1016 / S1089-3261 (03) 00133-8 . PMID 15062197 . (Review).

[PMID12887856-4] I. Nicolás, JA Pons, A. Vargas, F. Gallardo, A. Albaladejo, JM Nicolás: [Ursodeoxycholic acid treatment shortens the course of cholestasis in two patients with benign recurrent intrahepatic cholestasis]. In: Gastroenterología y hepatología. Volume 26, Number 7, 2003 Aug-Sep, pp. 421-423, ISSN 0210-5705 . PMID 12887856 .