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A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
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Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy

Nurhayat Yakut1, Behzat Tuzun2, Nurcan Ucuncu Ergun3

  • 1Basaksehir Cam and Sakura City Hospital, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.

Revista Da Sociedade Brasileira De Medicina Tropical
|September 22, 2022
PubMed

Insights

Homocystinuria, an inherited disorder, can lead to dangerous blood clots. A late diagnosis in a patient with COVID-19 highlights the need for vigilance against these thromboembolic events.

Area of Science:

  • Genetics
  • Vascular Medicine
  • Infectious Diseases

Background:

  • Homocystinuria is an inherited metabolic disorder.
  • It is associated with a high risk of thromboembolic events.
  • Coronavirus disease 2019 (COVID-19) also increases the risk of blood clots.

Observation:

  • A case of late-diagnosed homocystinuria is presented.
  • The patient also had a COVID-19 infection.
  • The presentation involved deep venous thrombosis.

Findings:

  • This case illustrates the potential for severe thromboembolic complications in homocystinuria.
  • The co-occurrence of COVID-19 may exacerbate thrombotic risk.

Implications:

  • A high index of suspicion for homocystinuria is crucial for early diagnosis and management.
  • Prompt identification can prevent life-threatening thromboembolic events.
  • Understanding the interplay between inherited disorders and infections is vital for patient care.

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