Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families

Abstract

In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort of patients with particular focus upon quality of life aspects. Sixty-two individuals from separate families with acute porphyrias (57 AIP, 5 VP) were included into an observational study collecting biochemical, genetic, and clinical data. A questionnaire was designed to complete anamnestic information and to assess the influence on quality of life. Most frequent signs and symptoms or laboratory abnormalities were abdominal colicky pain, red coloration of urine, and hyponatremia. Depression or anxiety was reported by 61% or 52% individuals, respectively. Fatigue was mentioned as the most quality of life-limiting symptom. In 59/61 patients, mutations could be identified. 44% (20/45) had to be admitted to an intensive care unit. Heme arginate was used in 64% (29/45) of patients for treatment of acute attacks at least once and in 33% for long-term treatment with high frequency of administration. Serum creatinine values increased in 47% (7/17) of the patients with recurrent attacks. Our analysis confirms a substantial influence of the diseases on the quality of life on patients. Percentages of urine discoloration and intensive care unit admissions were much higher than in other reports. Long-term treatment with heme arginate requires careful monitoring of iron status and renal values.

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Abbreviations

5-ALA:

5-aminolevulinic acid

PBG:

porphobilinogen

siRNA:

silencing RNA

AIP:

acute intermittent porphyria

HCP:

hereditary coproporphyria

VP:

variegate porphyria

FMF:

familial Mediterranean fever

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Acknowledgments

We thank the patients for providing information through personal interviews and QOL questionnaires and their informed consent.

Funding

This study was not funded.

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Correspondence to Petro E. Petrides.

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The authors declare that they have no conflict of interest.

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This article does not contain any studies with human participants performed by any of the authors.Informed consent

Informed consent was obtained from all individual participants included in the study.

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Bronisch, O., Stauch, T., Haverkamp, T. et al. Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families. Ann Hematol 98, 2683–2691 (2019). https://doi.org/10.1007/s00277-019-03831-7

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Keywords

  • Acute porphyria
  • Quality of life
  • Recurrent attacks
  • Mutation analysis