Thrombophlebitis in an Adolescent Patient With Primary Carnitine Deficiency: A Case Report
- 1Department of Pediatrics, Mohammed VI University Hospital Center, Cadi Ayyad University, Marrakech, MAR
- 2Department of Radiology, Mohammed VI University Hospital Center, Cadi Ayyad University, Marrakech, MAR
Abstract
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in SLC22A5, leading to defective carnitine transport and impaired mitochondrial long-chain fatty acid β-oxidation. Lifelong L-carnitine supplementation constitutes the mainstay of therapy and has been shown to effectively prevent metabolic decompensations. However, oral carnitine is partially metabolized by gut microbiota to trimethylamine, which is subsequently converted to trimethylamine N-oxide (TMAO), a metabolite that has been associated with increased thrombotic risk in both experimental and observational studies. We report the case of a 14-year-old boy with PCD on long-term, high-dose L-carnitine who developed acute superficial thrombophlebitis of the left great saphenous vein in the presence of previously undiagnosed congenital infrarenal inferior vena cava (IVC) agenesis with extensive collateral varices. No conventional prothrombotic risk factors were identified. The patient was successfully treated with anticoagulation while L-carnitine therapy was continued. This case illustrates that congenital IVC anomalies may predispose patients with PCD to venous thrombosis and raises the hypothesis that chronic L-carnitine supplementation may contribute as an additional prothrombotic factor through TMAO elevation.
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BibTeX
@article{kaouani2026thrombophlebitis,
title = {{Thrombophlebitis in an Adolescent Patient With Primary Carnitine Deficiency: A Case Report}},
author = {Douaa Kaouani and Noama Ryad and Mariam Lagrine and Sara Ouassil and Hussein Choukri Ahmanna and Rabiy Elqadiry and Houda Nassih and Aicha Abourrahouat and Hicham Jalal and Imane Aitsab},
journal = {Cureus},
year = {2026},
month = sep,
doi = {10.7759/cureus.117164},
url = {https://europepmc.org/article/PMC/PMC13719109},
note = {CC BY},
}
RIS
TY - JOUR
TI - Thrombophlebitis in an Adolescent Patient With Primary Carnitine Deficiency: A Case Report
AU - Douaa Kaouani
AU - Noama Ryad
AU - Mariam Lagrine
AU - Sara Ouassil
AU - Hussein Choukri Ahmanna
AU - Rabiy Elqadiry
AU - Houda Nassih
AU - Aicha Abourrahouat
AU - Hicham Jalal
AU - Imane Aitsab
PY - 2026
DA - 2026/09/29
JO - Cureus
DO - 10.7759/cureus.117164
UR - https://europepmc.org/article/PMC/PMC13719109
AB - Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in SLC22A5, leading to defective carnitine transport and impaired mitochondrial long-chain fatty acid β-oxidation. Lifelong L-carnitine supplementation constitutes the mainstay of therapy and has been shown to effectively prevent metabolic decompensations. However, oral carnitine is partially metabolized by gut microbiota to trimethylamine, which is subsequently converted to trimethylamine N-oxide (TMAO), a metabolite that has been associated with increased thrombotic risk in both experimental and observational studies. We report the case of a 14-year-old boy with PCD on long-term, high-dose L-carnitine who developed acute superficial thrombophlebitis of the left great saphenous vein in the presence of previously undiagnosed congenital infrarenal inferior vena cava (IVC) agenesis with extensive collateral varices. No conventional prothrombotic risk factors were identified. The patient was successfully treated with anticoagulation while L-carnitine therapy was continued. This case illustrates that congenital IVC anomalies may predispose patients with PCD to venous thrombosis and raises the hypothesis that chronic L-carnitine supplementation may contribute as an additional prothrombotic factor through TMAO elevation.
SN - 2168-8184
ER -