Case Report: Co-inheritance of Familial LCAT Deficiency and α0-Thalassemia

A 2026 case report by Yinbing Zhu details the first documented co-inheritance of familial lecithin-cholesterol acyltransferase (LCAT) deficiency and α0-thalassemia in a 50-year-old Chinese patient. The report includes clinical presentation, laboratory findings, renal biopsy results, and comprehensive genetic testing outcomes. It is published under a CC-BY-4.0 license on figshare.

Use Cases

• Study rare disease co-occurrence patterns based on the detailed clinical and genetic case description.
• Analyze genotype-phenotype correlations in LCAT deficiency based on the reported mutation (c.355G>C, p.Gly119Arg) and clinical outcomes.
• Investigate diagnostic pathways for complex presentations based on the multi-system involvement described (renal, ocular, hematological).
• Support genetic counseling education based on the discussion of consanguinity and co-transmission of recessive variants.

Strengths

• Report includes specific genetic mutation details (LCAT: c.355G>C, p.Gly119Arg; HBA: -SEA/αα).
• Contains detailed clinical data including laboratory results (HDL-C, nephrotic syndrome) and renal biopsy findings.
• Documented as the first reported case of this specific genetic co-inheritance, providing novel clinical insight.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is a single case report, limiting statistical generalizability.

Provenance

Source

figshare

Collection Method

Clinical case documentation and genetic analysis.

Time Range

Case presentation from 2026.

Freshness

Last updated 2026-04-16 22:01:33; freshness should be verified.

Geography

Patient is Chinese; specific location not detailed.