460 results match your criteria: "Variegate Porphyria"
A 38-year-Old Woman With Flaccid Tetraparesis after Presenting With Abdominal Pain.
Neurohospitalist
September 2024
Hospital Israelita Albert Einstein, São Paulo, Brazil.
Article Synopsis
- - A 38-year-old woman experienced severe abdominal pain and underwent laparoscopic surgery to remove her gallbladder.
- - After the surgery, she suffered from various complications, including increasing abdominal pain, rapid heart rate, muscle weakness, and issues with urination and bowel movements.
- - Testing revealed a high level of porphobilinogen in her urine, highlighting the importance of evaluating different diagnoses when abdominal pain is accompanied by neurological symptoms.
Hepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.
Dig Dis Sci
November 2024
University of Texas Medical Branch, Galveston, TX, USA.
Article Synopsis
- Hepatocellular carcinoma (HCC) is a potential long-term complication for patients with acute hepatic porphyria (AHP), and this study aims to assess its incidence and identify high-risk groups.
- The meta-analysis included data from 12 studies with 2,735 AHP patients, revealing an overall HCC incidence of 0.3% per year, with higher rates in specific subtypes like acute intermittent porphyria (AIP) and in older females, symptomatic patients, and those with additional liver disease risk factors.
- The findings highlight the need for future research to create effective screening and surveillance strategies for HCC in AHP patients, due to the identified
Therapeutic approach to acute crises of hepatic porphyrias.
Rev Clin Esp (Barc)
December 2024
Unidad de Enfermedades Raras y Autoinmunes Sistémicas, Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Article Synopsis
- - Acute hepatic porphyria is a genetic disorder that affects the production of heme and is primarily caused by issues with specific enzymes, with acute intermittent porphyria being the most common type.
- - Triggered by factors that induce the enzyme ALA synthase 1, this disorder leads to the buildup of toxic heme intermediates, causing severe symptoms such as abdominal pain, muscle weakness, and autonomic dysfunction; women are more prone to these attacks than men.
- - Prompt recognition and treatment are essential, requiring urgent medical interventions like intravenous opioids and glucose, while preventive measures include hormone suppression and possibly liver transplantation.
[An overview of porphyrias].
Dermatologie (Heidelb)
July 2024
Klinik für Dermatologie, Venerologie und Allergologie, Universitätsmedizin Göttingen, Robert Koch Str. 40, 37075, Göttingen, Deutschland.
Article Synopsis
- Porphyrias are genetic metabolic disorders that disrupt enzymes involved in producing porphyrin and heme, leading to toxic byproducts like porphyrins.
- Symptoms vary widely, including skin issues in sunlight and dangerous neurovisceral attacks.
- Diagnosis involves biochemical tests of urine, blood, and stool, and treatment is complex, often needing collaboration among various medical specialists.
Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Semin Liver Dis
May 2024
Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Article Synopsis
- - Hepatic porphyrias are metabolic disorders where excess porphyrin precursors accumulate in the liver, leading to neurological symptoms and skin sensitivity, with some cases resulting in severe acute neurovisceral attacks.
- - This review focuses on types of acute hepatic porphyrias (like acute intermittent porphyria and hereditary coproporphyria) and those with skin symptoms (like porphyria cutanea tarda), addressing prevalence, symptoms, and treatments.
- - It also explores new treatment options, such as gene therapy using adeno-associated vectors and innovative chaperone therapies like lipid nanoparticles and small interfering RNA-based treatments.
PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Rev Clin Esp (Barc)
May 2024
Unidad de Enfermedades Minoritarias y Errores Congénitos del Metabolismo del Adulto (CSUR), Servicio de Medicina Interna, Hospital Universitario 12 de Octubre, Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre (i + 12), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), unidad 723, Madrid, Spain.
Article Synopsis
- Acute hepatic porphyrias (AHPs) are rare diseases with nonspecific symptoms that make diagnosis and patient follow-up challenging.* -
- The study utilized DELPHI methodology to formulate and reach a consensus on ten PICO questions addressing the diagnosis and management of AHPs among experts.* -
- Results identified four key areas for improvement: biochemical diagnosis, molecular testing, patient follow-up, and long-term complication screening in AHP management.*
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
Liver Int
April 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Article Synopsis
- The acute hepatic porphyrias (AHPs) are a group of four rare genetic disorders that cause serious, episodic neurological symptoms due to a buildup of specific chemical precursors in the liver.
- Diagnosis can be challenging due to non-specific symptoms, but specialized tests during attacks can confirm the condition.
- Treatment for severe episodes includes intravenous hemin, and potential long-term management with givosiran is available for patients with frequent attacks; regular health surveillance is also necessary to monitor for serious complications.
Insight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.
Biochemistry
January 2024
State Key Laboratory of Elemento-Organic Chemistry and Department of Chemical Biology, National Pesticide Engineering Research Center (Tianjin), Nankai University, 94 Weijin Road, Tianjin 300071, China.
Article Synopsis
- Protoporphyrinogen IX oxidase (PPO) is crucial in making chlorophyll and heme, and mutations in this enzyme are linked to the hereditary disease variegate porphyria (VP).* -
- Research identified that VP-related mutations are found on the G169 helix cluster, which affects PPO's activity even though these mutations are not on the active site.* -
- Experimental studies showed that these mutations disrupt the proper positioning of substrates in PPO's active site and alter the enzyme's overall structure, highlighting the importance of the G169 helix cluster for PPO function.*
Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.
Orphanet J Rare Dis
December 2023
Department of General Medicine and Neurology, Saiseikai Central Hospital, Tokyo, Japan.
Article Synopsis
- Acute hepatic porphyria (AHP) is a rare genetic disease that can cause painful attacks and ongoing health problems, and this study looked at patients in Japan from 2008 to 2020.
- Out of 391 AHP patients, many suffered from serious issues like sleep disorders and stomach pain, and they had high rates of complications like liver damage and other serious conditions compared to people without AHP.
- For older AHP patients (55 years and older), liver-related complications were especially common.
Sunlight's Dark Side: A Case of Subtle Skin Lesions and Hyperpigmentation.
Gastroenterology
March 2024
Bulgarian Porphyria Center, University Hospital Sveti Ivan Rilski, Sofia, Bulgaria.
Further Characterization of the Neuroendocrine Phenotype Associated With the PPOX-Related Variegate Porphyria.
Pediatr Neurol
December 2023
Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:
Article Synopsis
- Variegate porphyria is caused by PPOX gene mutations and typically shows symptoms in older adolescents and adults, but the homozygous variant can affect children with distinct neurological and skin manifestations.
- The study reviewed the cases of three children from a consanguineous family, who exhibited symptoms like nystagmus, developmental delays, and adrenal insufficiency, all confirmed through genetic testing and porphyrin analysis.
- The findings suggest the importance of porphyrin analysis in cases of unexplained hypomyelination and recommend screening for adrenal insufficiency in patients with variegate porphyria.
Porphyrias: Uncommon disorders masquerading as common childhood diseases.
J Postgrad Med
July 2023
Department of Dermatology, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.
Article Synopsis
- - Porphyrias are rare genetic disorders linked to defects in the body’s ability to produce heme, leading to excessive levels of porphyrin compounds in the body.
- - Patients with porphyria often experience a variety of overlapping symptoms that can be easily mistaken for more common illnesses, making diagnosis challenging.
- - The study discusses four pediatric cases of different types of porphyria, highlighting the importance of careful symptom analysis, targeted testing, and genetic testing in accurate diagnosis.
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.
J Inherit Metab Dis
July 2023
Norwegian Organization for Quality Improvement of Laboratory Examinations (Noklus), Haraldsplass Deaconess Hospital, Bergen, Norway.
Article Synopsis
- Acute porphyrias are rare inherited disorders that provoke severe neurovisceral attacks, and unclear terminology in the field has led to management and communication challenges.
- A group of international experts used the Delphi method to reach a consensus on nine key terms and definitions related to acute porphyria, which involved brainstorming and multiple rounds of voting.
- Achieving agreement on these definitions is a major advancement for the porphyria community, as it will enhance the consistency of clinical research, improve patient management, and help formulate evidence-based clinical guidelines.
A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.
Rambam Maimonides Med J
January 2023
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Article Synopsis
- The study examines the effects of a 25-hour fast during Yom Kippur on patients with acute hepatic porphyria (AHP), specifically focusing on hereditary coproporphyria (HCP) and variegate porphyria (VP).
- A total of 21 HCP and 40 VP patients participated, with 30 fasting and 31 non-fasting; most fasting patients (96.67%) reported no symptoms post-fast.
- The research concluded that fasting did not significantly increase the risk of acute attacks in stable patients, suggesting it is likely safe for these individuals.
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Gastroenterology
March 2023
Departments of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Article Synopsis
- The acute hepatic porphyrias (AHP) are rare genetic disorders that disrupt heme metabolism, with acute intermittent porphyria being the most common and presenting mainly in women aged 15-50 with severe abdominal pain.
- Key diagnostic tests include measuring urine porphobilinogen and δ-aminolevulinic acid, and patients with elevated levels are presumed to have AHP until proven otherwise.
- Management includes stopping triggering medications, providing supportive treatments (like dextrose and hemin), and considering liver transplantation for those with severe and unmanageable symptoms.
An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.
Turk Arch Pediatr
January 2023
Division of Nutrition and Metabolism, Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, İstanbul, Turkey.
Article Synopsis
- Porphyrias are genetic disorders affecting the heme biosynthesis pathway, leading to episodic attacks with neurovisceral or skin symptoms, often involving multiple organ systems.
- Acute hepatic porphyrias include conditions like acute intermittent porphyria and hereditary coproporphyria, presenting with neurological issues, especially in children, and are diagnosed during acute attacks through specific urine tests.
- Treatment focuses on reducing harmful substances in the body by avoiding certain medications, using hemin therapy during severe attacks, and exploring options like givosiran for severe cases.
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
J Inherit Metab Dis
March 2023
Hepatology Division, Department of Upper GI Diseases, Karolinska University Hospital, Stockholm, Sweden.
Article Synopsis
- - The study investigates the long-term complications of acute hepatic porphyrias (AHP), focusing on risks for various health issues and mortality among patients diagnosed between 1987-2015 in Sweden.
- - Researchers found a notable increase in risks for kidney cancer, hypertension, and chronic kidney disease in AHP patients compared to a matched general population, but no elevated risk for most other nonhepatic cancers or cardiovascular diseases.
- - The mortality rate for AHP patients was higher (21%) than that of the general population (18%), linked to factors such as primary liver cancer, female sex, and the level of biochemical activity in the disease.
Systematic review of the prevalence and incidence of the photodermatoses with meta-analysis of the prevalence of polymorphic light eruption.
J Eur Acad Dermatol Venereol
March 2023
Centre for Dermatology Research, Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK.
Article Synopsis
- There is a lack of comprehensive data on the prevalence of photodermatoses, which significantly affect quality of life, prompting a systematic review of existing literature on this topic.
- The review examined 26 studies, identifying 15 that reported the prevalence of various photodermatoses in general populations and 11 from national and international registries, finding that polymorphic light eruption (PLE) was the most commonly studied condition.
- Results revealed a global pooled prevalence of PLE at around 10% among the general population, with prevalence rates varying widely by country and increasing with distance from the equator, highlighting its notable presence in diverse locations like Egypt.
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy.
Front Genet
October 2022
Division of Neurorehabilitation, Fribourg Hospital Meyriez/Murten, Fribourg, Switzerland.
Article Synopsis
- Porphyrias are rare genetic disorders caused by mutations that lead to a deficiency in enzymes responsible for heme biosynthesis, resulting in toxic compound accumulation and various symptoms.
- Variegate porphyria, a type of acute hepatic porphyria, is linked to a mutation in the PPOX gene and can be triggered by factors like stress, drugs, or fasting, causing severe neurological issues.
- A case study of a 46-year-old woman who developed severe symptoms after gastric bypass surgery highlights the importance of recognizing porphyria symptoms before surgical interventions to prevent serious complications.
ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.
Biochemistry
November 2022
Precision Medicine and Metabolism Laboratory, CIC bioGUNE, Basque Research and Technology Alliance (BRTA), Bizkaia Science and Technology Park, 48160 Derio, Spain.
Article Synopsis
- Patients with acute hepatic porphyrias experience neurological attacks due to an overproduction of porphobilinogen (PBG) and δ-aminolevulinic acid (ALA).
- In acute intermittent porphyria (AIP), gene mutations cause a deficiency in the enzyme PBG deaminase, leading to PBG buildup, although the exact accumulation of ALA remains unclear.
- Research findings indicate that even low levels of PBG can inhibit the enzyme responsible for breaking it down, thereby causing an immediate increase in ALA levels, contributing to the symptoms seen in acute porphyrias.
Generation and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX gene.
Sci Rep
October 2022
Laboratory of Structural Biology, Institute of Biotechnology of the Czech Academy of Sciences, BIOCEV, Prumyslova 595, Vestec, 25250, Czech Republic.
Article Synopsis
- Disruptions in the heme biosynthetic pathway, such as decreased protoporphyrinogen oxidase IX (PPO) activity, lead to porphyrias, notably variegate porphyria, affecting heme production.
- Researchers created human cell lines with inactivated PPO using CRISPR/Cas9, which showed normal growth but accumulated protoporphyrinogen IX and exhibited low heme levels, impacting cellular respiration.
- Proteomic analysis indicated significant changes in 22 proteins, with an upregulation of key heme biosynthesis regulators, and reintroducing PPO reversed the effects, demonstrating the model's utility in studying variegate porphyria's metabolic disruptions.
A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.
Pediatr Dermatol
March 2023
Department of Dermatology, Virginia Commonwealth University, Richmond, Virginia, USA.
Article Synopsis
- * A case study focuses on a 9-year-old girl with VP who has additional medical complications, complicating the understanding of her skin lesions.
- * VP occurs less frequently in children and is associated with more severe neuropsychiatric symptoms than in adults.