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Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient
Author(s) -
Gunzer Sophia,
Kraus Andreas,
Buchroth Inka,
Grüneberg Marianne,
Westermann Cordula,
Biskup Saskia,
Reunert Janine,
Grünewald Inga,
Marquardt Thorsten
Publication year - 2021
Publication title -
liver international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.873
H-Index - 110
eISSN - 1478-3231
pISSN - 1478-3223
DOI - 10.1111/liv.15029
Subject(s) - haptoglobin , liver biopsy , endoplasmic reticulum , liver disease , pathology , medicine , fibrosis , biology , biopsy , genetics
Cryptogenic elevation of transaminases in childhood can in a few instances be linked to rare hereditary causes. In this paper, a 7‐year old girl is reported who was diagnosed with elevated transaminases of unknown origin since infancy. A liver biopsy showed bridging fibrosis, pale eosinophilic intracytoplasmic hepatocellular inclusions and enlarged endoplasmic reticulum cisternae in the hepatocytes. Whole‐exome sequencing revealed a homozygous in‐frame 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‐1‐antitrypsin‐deficiency.