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Fibrinogen storage disease without hypofibrinogenemia associated with estrogen therapy
Z Simsek1, O Ekinci, M Cindoruk
1Gastroenterology Department, Gazi University, Faculty of Medicine, Ankara, Turkey. zahidesimsek@yahoo.com
Insights
Estrogen replacement therapy can cause fibrinogen storage disease, a type of endoplasmic reticulum storage disease (ERSD). Liver biopsies are crucial for diagnosing this rare condition, especially in patients with unexplained liver enzyme abnormalities.
Area of Science:
- Hepatology
- Endocrinology
- Pathology
Background:
- Cytoplasmic inclusion bodies in hepatocytes can indicate Endoplasmic Reticulum Storage Diseases (ERSD).
- ERSD involves abnormal protein accumulation in the endoplasmic reticulum, leading to liver dysfunction.
- Fibrinogen storage disease is a specific type of ERSD.
Observation:
- A case of secondary fibrinogen storage disease linked to estrogen replacement therapy is presented.
- Histological, immunohistochemical, and ultrastructural analyses of liver biopsies confirmed the diagnosis.
- Paired liver biopsies taken during and after therapy demonstrated the drug's causal role.
Findings:
- Estrogen replacement therapy can induce fibrinogen storage disease.
- Cytoplasmic inclusion bodies, specifically fibrinogen deposits, were identified in hepatocytes.
- The condition is a secondary ERSD, acquired due to medication.
Implications:
- Liver biopsies should be examined for inclusion bodies in cases of idiopathic liver enzyme abnormalities.
- Fibrinogen storage disease, though rare, should be considered in the differential diagnosis.
- Understanding drug-induced ERSD is vital for accurate patient management and diagnosis.
Background:
Cytoplasmic inclusion bodies within hepatocytes may have different etiologies, including the Endoplasmic Reticulum Storage Diseases (ERSDs). ERSD is a pathological condition characterized by abnormal accumulation of proteins destined for secretion in the endoplasmic reticulum of hepatocytes; it may be congenital (primary) or acquired (secondary). Fibrinogen storage disease is a form of ERSD.
Case Presentation:
We present a case of fibrinogen storage disease secondary to estrogen replacement therapy. Its causal relationship to the drug is shown by histological, immunohistochemical and ultrastructural studies of paired liver biopsies obtained during and after the drug therapy.
Conclusion:
The liver biopsies of patients with idiopathic liver enzyme abnormalities should be carefully evaluated for cytoplasmic inclusion bodies and, although rare, fibrinogen deposits.
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