Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Did Ulysses have porphyria?

Claus A Pierach¹

¹History of Medicine Hospital, and Watson Laboratory, University of Minnesota Medical School, Minneapolis, 55455, USA. piera003@umn.edu

The Journal of Laboratory and Clinical Medicine

|July 15, 2004

Summary

Porphyrias, diseases of heme biosynthesis, are sometimes misdiagnosed. Careful laboratory testing and clinical interpretation are crucial to avoid unnecessary patient detours and ensure accurate diagnosis.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Give me a break: Gerhard Küntscher and his nail.

Perspectives in biology and medicine·2015

Same author

Foie gras.

The Journal of laboratory and clinical medicine·2005

Same author

Recommendations for the diagnosis and treatment of the acute porphyrias.

Annals of internal medicine·2005

Same author

[The "New Times" in the academic medicine].

Deutsche medizinische Wochenschrift (1946)·2002

Same author

Hypercarotenemia.

The New England journal of medicine·2002

Same author

Looking for diastolic dysfunction.

Circulation·2002

Area of Science:

Biochemistry
Clinical Medicine
Medical Diagnostics

Background:

The heme biosynthetic pathway is well-understood, with known genetic errors linked to specific diseases called porphyrias.
Despite clear pathways, subtle abnormalities are sometimes incorrectly attributed to porphyria, complicating diagnoses.
Patients with unexplained symptoms may undergo extensive, unnecessary medical interventions if porphyria is wrongly suspected.

Discussion:

Porphyrias exemplify the critical interplay between laboratory findings and clinical presentation in medicine.
Misdiagnosis can lead to the 'Ulysses syndrome,' where patients experience prolonged diagnostic odysseys.
Accurate diagnosis hinges on judicious test selection and insightful interpretation of results.

Key Insights:

The diagnosis of porphyria requires careful consideration of clinical symptoms alongside laboratory data.
Non-specific abnormalities should not be automatically equated with a diagnosis of porphyria.
The risk of misdiagnosis and subsequent iatrogenic detours can be minimized through rigorous diagnostic protocols.

Outlook:

Future efforts should focus on refining diagnostic criteria for porphyrias to reduce misdiagnosis rates.
Enhanced collaboration between laboratory specialists and clinicians is essential for complex cases.
Improving the understanding of non-specific symptoms can help differentiate them from true porphyric presentations.

Related Experiment Videos