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A liver biopsy showed bridging fibrosis, pale eosinophilic intracytoplasmic hepatocellular inclusions and enlarged endoplasmic reticulum cisternae in the hepatocytes. Whole\u2010exome sequencing revealed a homozygous in\u2010frame deletion of 3 base pairs in the haptoglobin gene. The patient is anhaptoglobinemic measured by standard laboratory turbidometry, which was confirmed by Western Blotting and thereby shown to affect both protein chains of haptoglobin. A polyclonal antibody revealed haptoglobin retention in hepatocytes suggesting a defect in haptoglobin secretion. A novel, previously unknown haptoglobin storage disease is suspected to be the reason for the elevated liver enzymes and tissue abnormalities in this patient. The pathophysiology appears to be similar to endoplasmic reticulum storage diseases like alpha\u20101\u2010antitrypsin\u2010deficiency.<\/jats:p>","DOI":"10.1111\/liv.15029","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T17:35:00Z","timestamp":1628271300000},"page":"2427-2432","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6934-9484","authenticated-orcid":false,"given":"Sophia","family":"Gunzer","sequence":"first","affiliation":[{"name":"Department of General Paediatrics Metabolic Diseases University Children's Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Kraus","sequence":"additional","affiliation":[{"name":"Institute for Experimental Immunology and Imaging University Hospital University Duisburg\u2010Essen Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inka","family":"Buchroth","sequence":"additional","affiliation":[{"name":"Gerhard\u2010Domagk\u2010Institute of Pathology University Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Gr\u00fcneberg","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Metabolic Diseases University Children's Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cordula","family":"Westermann","sequence":"additional","affiliation":[{"name":"Gerhard\u2010Domagk\u2010Institute of Pathology University Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[{"name":"CeGaT GmbH T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Reunert","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Metabolic Diseases University Children's Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inga","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[{"name":"Gerhard\u2010Domagk\u2010Institute of Pathology University Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Metabolic Diseases University Children's Hospital Muenster Muenster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cld.2012.03.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v19.i18.2740"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2016.6793"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibtech.2012.10.003"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V91.9.3524"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301701"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.003"},{"key":"e_1_2_10_9_1","unstructured":"HaptoglobinWK.Haptoglobin: biosynthesis and evolution. 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