19.04.2024 – 12:32
Alnylam Germany GmbH
Munich (ots)
Symptoms such as severe stomach pain, fatigue or anxiety are extremely limiting for those affected.
Misdiagnosis is common in acute porphyria and it often takes many years before the disease is recognized.
A simple self-test can provide an initial indication of acute porphyria.
“Pain like I’ve never had before in my life”[1] – this is how one affected person describes the severe, cramp-like abdominal pain that almost all patients (92%) with acute porphyria are familiar with.[2],[3] These diffuse abdominal pains, which cannot be pinpointed to one area, are the most common, but not the only, symptom of these rare diseases: other symptoms such as nausea and vomiting, anxiety, fatigue or pain in the limbs typically also occur[4],[5] on. It is precisely these non-specific, acute or persistent complaints that present doctors with major challenges. Therefore, it can take up to 15 years for the disease to be recognized and diagnosed.[5] Until then, patients are confronted with a variety of suspected diagnoses, such as irritable bowel syndrome, gastritis, endometriosis, fibromyalgia, appendicitis or gallbladder inflammation. But the symptoms keep coming back because the underlying disease remains undetected for so long.
Complaints temporarily take patients out of their lives
Symptoms of acute porphyria usually first appear in young adulthood. 83% of those affected are women who are between twenty and forty years old when the first attacks occur.[5] The disease affects patients during their training, in their professional life or during their family phase. The severe symptoms significantly restrict professional and private activities. They temporarily take patients out of their lives and then usually disappear completely until the next attack. This can lead to family, friends and colleagues classifying the recurring symptoms as psychosomatic.[5]
A simple urine test can provide an initial indication
If the urine collected during or after an attack turns dark or reddish when standing in the air, this may be the first indication of acute porphyria. In this case, and especially when the typical symptom combinations with severe abdominal pain occur, a doctor can use a spot urine test to determine the concentration of porphobilinogen (PBG), aminolevulinic acid (ALA) and porphyrin and diagnose the disease.[4],[6] Since acute porphyria is an inherited metabolic disease, a genetic test ultimately confirms the diagnosis.[4]
Avoid triggers and contain symptoms
The tricky thing about acute porphyria is that it occurs[n von Attacken unvorhersehbar ist und sie schon beim ersten Mal einen schweren Verlauf nehmen sowie zu anhaltenden Behinderungen führen können. Als Krankheitsursache werden erhöhte ALA- und PBG-Werte vermutet. Da die akute Porphyrie genetisch bedingt ist, ist eine Heilung nicht möglich. Es gibt inzwischen Behandlungsmöglichkeiten, die helfen können, die Gefahr von Attacken zu verringern.
Darüber hinaus ist es für Betroffene wichtig, die Faktoren zu kennen, die eine Attacke auslösen können. Dazu gehören neben Alkohol, Rauchen oder Stress auch bestimmte Medikamente, Fasten und extreme Diäten. Betroffene sollten ihre individuellen Auslöser im Alltag identifizieren und vermeiden.[6],[7] Keeping a symptom diary can provide valuable support here. Those affected, relatives and interested parties can find valuable tips for talking to the doctor and other helpful information on the website www.lebenmitporphyrie.de.
Acute porphyria – what is it?
Acute porphyria includes a group of rare, genetic diseases. They can lead to potentially life-threatening attacks, chronic symptoms and long-term complications. In the United States and Europe, approximately 5,000 people have at least one attack per year, 1,000 people experience frequent and severe attacks that result in multiple hospitalizations each year, and one in two patients experiences chronic symptoms almost daily.[8],[9],[10],[11]
Acute porphyria is caused by a genetic defect that leads to impaired function of an enzyme that is involved in the formation of heme in the liver. Due to the increased need for heme, an enzyme involved in the synthesis of heme, aminoluvalic acid synthase 1 (ALAS1), is upregulated.[8],[12],[13] This leads to an overproduction of the metabolic products PBG (porphobilinogen) and ALA (aminolevulinic acid). It is assumed that these metabolic products are the causes of the typical symptoms and clinical pictures.[12],[13],[14]
Depending on the enzyme defect, three similar types of acute porphyria are distinguished and an extremely rare form of the disease called ALA dehydratase deficiency porphyria:[15]
Acute intermittent porphyria (AIP) Porphyria variegata (VP) Hereditary coproporphyria (HCP)
credentials
[1] last call: August 29, 2023
[2] Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann Intem Med 2005;142(6):439-450
[3] Gouya L, Bloomer JR, Balwani M, et al. Presented at: 2017 International Congress on Porphyrins and Porphyrias; June 26, 2017; Bordeaux, France
[4] last call: April 2nd, 2024
[5] last call: April 2nd, 2024
[6] last call: April 2nd, 2024
[7] last call: April 2nd, 2024
[8] Puy H, Gouya L, Deybach JC. Lancet 2010;375:924-937
[9] Elder G, Harper P, Badminton M et al. J Inherit Metab Dis 2013;36(5) 849-857
[10] last call: August 29, 2023
[11] Gouya L, Ventura P, Balwani M et al. Hepatology. 2020;71(5):1546-1558
[12] Bissell DM & Wang B. Acute Hepatic Porphyria 2015;3(1):17-26
[13] Balwani M, Wang B, Anderson KE et al. Hepatology 2017;66(4):1314-1322
[14] Pischik E & Kauppinen R. Appl Clin Genet 2015;8:201-214
[15] last call: April 2nd, 2024
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Original content from: Alnylam Germany GmbH, transmitted by news aktuell