Medizinische Universität Graz - Research portal
Selected Publication:
Pieber, M.
Acute Hepatic Porphyrias: Case reports at the Medical University Graz
Humanmedizin; [ Diplomarbeit ] Medical University of Graz; 2021. pp. 60
[OPEN ACCESS]
FullText
- Authors Med Uni Graz:
- Advisor:
- Stadlbauer-Köllner Vanessa
- Wagner Martin
- Altmetrics:
- Abstract:
- Abstract Background Porphyrias are genetically or – less often - acquired diseases of enzymes involved in heme biosynthesis. The subgroup of acute hepatic porphyrias (AHP) includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP) and aminolevulinic acid dehydratase deficiency porphyria (ALAD-Porphyria) and is characterized by acute attacks of overall unspecific symptoms dominated by abdominal pain. Many patients also experience symptoms between acute attacks. Due to the unspecific nature of symptoms and the rare occurrence of these diseases, the proper diagnosis of AHP is often missed and delayed. Thus, some patients remain symptomatic for years without receiving the correct diagnosis and therapy is withheld or – even worse – unnecessary diagnostic procedures are performed. The number of patients treated at the tertiary hospital centre of the Medical University of Graz who suffer from AHPs and their disease course are not yet known. Objective The aim of this work is (i) to determine the number of patients with AHP, who have been diagnosed or referred to the tertiary hospital centre at the Medical University Graz, (ii) to describe their individual disease course and (iii) to compare it with the disease course reported in literature. In addition, the work aims to find out whether the patients would be eligible for new forms of therapy and whether they would benefit from them Methods This diploma thesis is a retrospective data analysis of patients who have been diagnosed or treated for AHP at the Medical University Graz since 2004. Data has been retrieved with the help of the Medical Institute for Informatics, who searched the clinical record system MEDOCS for the terms AHP, AIP, VP, HCP and ALAD-Porphyria, acute hepatic porphyria, acute intermittent porphyria, variegate porphyria, hereditary coproporphyria as well as for the ICD-10 codes E80.1 and E80.2 in various combinations. In addition, a similar query was carried out for patients with elevated delta-aminolevulinic acid (5ALA) and porphobilinogen (PBG) values in the 24-hour urine. The literature search was carried out in PubMed, Google Scholar and textbooks of internal medicines and biochemistry. Results A total of five patients with a definite diagnosis of AHP were included in the data analysis. The time from first onset of symptoms to initial diagnosis was more than a year in four of the five patients. Three patients underwent surgery for their abdominal pain without identifying a disease that would explain the symptoms. Four of these five patients showed symptoms in between acute attacks which can be linked to AHPs. The patients spent an average of 6.7 days in the hospital for treatment of acute attacks. All patients received hemin for acute attacks and two as prophylactic therapy. Side-effects of hemin therapy occurred in two out of five patients. One patient died from complications of AIP. Conclusion This retrospective data analysis identified five patients with the diagnosis of AHP at the tertiary hospital centre Medical University Graz since 2004. In contrast to the assumption that AHP is a disease with recurrent attacks and symptom-free intervals, four out of five patients had a chronic disease course with symptoms in between attacks. This is in line with a recent report on a large international cohort of AHP patients. Prophylactic therapy with hemin does not cease all of their symptoms and a better disease control with novel therapies, such as Small interfering RNA (siRNA), is desired.