Psychiatric disorders as debut of acute intermittent porphyria in a patient with no family history

Authors

Keywords:

PORPHYRIAS, HEME, PORPHOBILINOGEN.

Abstract

Introduction: acute porphyrias comprise a group of genetic disorders in the synthesis of the heme group, which can compromise life and whose clinical manifestations simulate other diseases such as: acute abdomen, peripheral neuropathy, primary psychiatric disorders, among others.

Case presentation: the delay in diagnosis, which is confirmed by demonstrating elevated levels of total porphyrins in blood and urine, delays the initiation of specific treatment, increasing morbimortality. We report a patient whose clinical manifestations led to several erroneous diagnoses, depriving her of adequate and timely treatment.

Conclusions: the clinical, diagnostic and therapeutic orientation are analyzed.  Acute intermittent porphyria is rare but serious, and should be considered in young women with acute abdominal pain not attributable to other causes.

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Author Biographies

Osniel González Hernández, Hospital General Docente Abel Santamaria Cuadrado

medico especialista de primer grado en medicina general integral y en Hematologia.

Grettel Borrego Cordero, Hospital Pediátrico Provincial Docente “Pepe Portilla”, Pinar del Río. Cuba

medico especialista primer grado en medicina general integral y hematologia.

Olga Agramonte Llanes, Instituto de Hematologia e inmunologia.

medico especialista de segundo grado en hematologia.

Yang Seet Fernandez Sanchez, Hospital General Docente Abel Santamaria Cuadrado

Licenciada en enfermeria.

References

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Published

2022-12-12

How to Cite

1.
González Hernández O, Borrego Cordero G, Agramonte Llanes O, Fernandez Sanchez YS. Psychiatric disorders as debut of acute intermittent porphyria in a patient with no family history. Rev Ciencias Médicas [Internet]. 2022 Dec. 12 [cited 2025 Aug. 22];26(6):e5528. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/5528

Issue

Section

CASE REPORTS