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

Ann Hematol 2019 Dec 19;98(12):2683-2691. Epub 2019 Nov 19.

EPNET Clinical Center Munich, Hematology Oncology Center and Ludwig Maximilians University Munich, Zweibrückenstr.2, 80331, Munich, Germany.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00277-019-03831-7DOI Listing
December 2019

Publication Analysis

Top Keywords

acute porphyrias
16
quality life
12
genetic clinical
8
long-term treatment
8
intensive care
8
clinical data
8
care unit
8
heme arginate
8
acute
6
patients
6
symptom 59/61
4
fatigue mentioned
4
mentioned quality
4
life-limiting symptom
4
quality life-limiting
4
mutations identified
4
admitted intensive
4
unit heme
4
arginate 64%
4
20/45 admitted
4

References

(Supplied by CrossRef)

DM Bissell et al.
N Engl J Med 2017

A Kühnel et al.
Clin Biochem 2000

H Bonkovsky et al.
Amer J Med 2014

H Puy et al.
Am J Hum Gen 1997

GN Cerbino et al.
Biomed Res Int 2015

C Herrero et al.
Med Clín (English Edition) 2015

I Bylesjö et al.
Scand J Clin Invest 2009

X Schneider-Yin et al.
Swiss Med Wkly 2009

RJ Hift et al.
Medicine 2005

E Pierro Di et al.
Cell Mol Biol (Noisy-le-grand) 2009

M Fraunberg von und zu et al.
Medicine 2005

Similar Publications