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Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients

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JIMD Reports, Volume 44

Part of the book series: JIMD Reports ((JIMD,volume 44))

Abstract

Background: There is minimal information available about acute hepatic porphyrias (AHPs) in developing countries. The aim of this study was to describe the demographics, clinical features, and mortality of AHPs in Colombia.

Patients and methods: 121 patients with presumed diagnosis of AHPs were reported in Colombia between 1944 and 2018. A pooled analysis of 53 patients with confirmed diagnosis was performed to evaluate the demographics, clinical features, and mortality of AHPs in the country. Selected variables were compared by periods (1952–2000 and 2001–2018).

Results: Most attacks occurred in women (66%), with a women-to-man ratio of 39/14. 96% of the patients were diagnosed with AHPs between 15 and 40 years of age. Precipitants were identified in 71% of attacks and more than one precipitant in 41% of them. Drugs (85%) and infections (44%) were the most common precipitants. 11% of women had premenstrual attacks. Abdominal pain was the most common symptom (96%). Cortical blindness, posterior reversible encephalopathy syndrome, and rhabdomyolysis were described. 70% of attacks were confirmed by qualitative test only. 67% of attacks were treated with intravenous heme. The use of heme increased from 4 to 85% in the last two decades. Mortality decreased about twofold in relation to the increase in the use of heme. Severe motor neuropathy was associated with increased mortality. Gonadorelin analogues, heme prophylaxis, and orthotopic liver transplantation have been used to prevent recurrent attacks.

Conclusions: Diagnosis and treatment of AHPs in Colombia have improved in recent decades. However, there are still important shortcomings to address.

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Abbreviations

AHPs:

Acute hepatic porphyrias

AIP:

Acute intermittent porphyria

ALA:

Aminolevulinic acid

ALAS1:

Aminolevulinic acid synthase 1

DNA:

Deoxyribonucleic acid

GnA:

Gonadorelin analogs

HCP:

Hereditary coproporphyria

HMBS:

Hydroxymethylbilane synthase

NAPOS:

Norwegian Porphyria Centre

OLT:

Orthotopic liver transplantation

PBG:

Porphobilinogen

PRES:

Posterior reversible encephalopathy syndrome

RNA:

Ribonucleic acid

VP:

Variegate porphyria

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Acknowledgment

We thank Jesenia Avendaño and Luis C. Hoyos for helping us obtain the articles.

Author information

Authors and Affiliations

  1. Colombian Porphyria Research Group (PorfiCol), IPS Universitaria – Universidad de Antioquia, Medellín, Colombia

    Daniel A. Jaramillo-Calle

  2. Institute of Medical Research, Universidad de Antioquia, Medellín, Colombia

    Daniel C. Aguirre Acevedo

Authors
  1. Daniel A. Jaramillo-Calle
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  2. Daniel C. Aguirre Acevedo
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Corresponding author

Correspondence to Daniel A. Jaramillo-Calle .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Bruce A. Barshop, MD, PhD

Compliance with Ethics Guidelines

Conflict of Interest

Daniel A. Jaramillo-Calle and Daniel C. Aguirre Acevedo declare that they have no conflict of interest.

Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Details of the Contributions of Individual Authors

Daniel A. Jaramillo-Calle designed the study, analyzed and interpreted the data, and drafted and reviewed the article. He is guarantor for the article.

Daniel C. Aguirre Acevedo participated in the design of the study and had input for revising the article.

Funding

This study was funded by the IPS Universitaria Universidad de Antioquia.

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Jaramillo-Calle, D.A., Aguirre Acevedo, D.C. (2018). Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 44. JIMD Reports, vol 44. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_125

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  • DOI: https://doi.org/10.1007/8904_2018_125

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  • Print ISBN: 978-3-662-58616-7

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