Vibrio vulnificus is an extremely invasive gram-negative bacillus found in marine waters that causes overwhelming bacteremia and shock that is associated with high mortality. Impaired iron metabolism has been implicated in the susceptibility to V vulnificus bacterial infections. We report a case of fatal V vulnificus sepsis in a 56-year-old man who died within 1 to 3 days after consuming raw seafood. At autopsy, he was found to have micronodular cirrhosis and iron overload. Postmortem genetic analysis revealed the presence of the hemochromatosis gene (HFE) C282Y mutation. To our knowledge, this is this first documented fatal case of V vulnificus infection in a patient proven to carry the HFE C282Y mutation. Because this patient was heterozygous for the major hereditary hemochromatosis mutation and was not previously diagnosed with clinical iron overload, the spectrum of clinical susceptibilities to V vulnificus infection may include carriers of the C282Y mutation.
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http://dx.doi.org/10.5858/2001-125-1107-VVSIAP | DOI Listing |
Dtsch Med Wochenschr
January 2025
RZ Rheumazentrum Rheinland-Pfalz GmbH, Bad Kreuznach, Deutschland.
A 54-year-old man presented with increasing arthralgia and swelling of the metacarpophalangeal (MCP) joints II and III for approximately 2 years. He also reported morning stiffness and joint pain in both knees and feet.Both MCP joints II and III and the proximal interphalangeal joints II and III were tender without visible swelling.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
One Health Research Group, Univerisdad de las Americas, Quito, Ecuador.
Background: Iron overload disorders, including hereditary hemochromatosis (HH), are characterized by excessive iron accumulation, which can cause severe organ damage. HH is most associated with the C282Y mutation in Caucasian populations, but its prevalence and genetic profiles in Latin American populations remain underexplored.
Objectives: To describe the clinical manifestations, genetic profiles, and biochemical characteristics of patients with suspected iron overload disorders in a specialized hematology center in Cali, Colombia.
PLoS One
December 2024
Department of Laboratory Medicine, Fujian Key Clinical Specialty of Laboratory Medicine, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Objective: The purpose of this study was to assess associations between iron homeostasis-related gene polymorphisms and gestational diabetes mellitus (GDM), adverse pregnancy outcomes, and neonatal outcomes.
Methods: In total, 138 patients with GDM and 74 normal pregnancy controls were recruited. Time-of-flight mass spectrometry was used to genotype single-nucleotide polymorphisms (H63D rs1799945, TMPRSS6 rs855791, GDF15 rs1059369, rs4808793, BMP2 rs173107, C282Y rs3811647, rs1800562, rs269853, TF rs8177240, TFR2 rs7385804, FADS2 rs174577, and CUBN rs10904850) in 12 candidate genes related to iron homeostasis.
Clin Biochem
January 2025
Division of Clinical Chemistry, Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Cureus
November 2024
Division of Hematology and Oncology, Sidney Health Center Cancer Care, Sidney, USA.
We present a case of a 34-year-old woman with a 12-week history of blistering skin lesions, ultimately diagnosed with co-existing porphyria cutanea tarda (PCT) and hereditary hemochromatosis (HH) due to a homozygous C282Y mutation. The patient's discovered genetic predisposition to iron overload played a key role in the development of clinically symptomatic PCT. Treatment with serial therapeutic phlebotomy was started, dramatically improving her symptomatic cutaneous disease, iron indices, and liver function tests.
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