Drug therapy in the acute porphyrias sciencedirect. Acute porphyrias are characterised by attacks of pain and other signs of neurological distress. Symptoms may last days to weeks and usually improve slowly after the attack. Pathophysiology, pharmacology and treatment of acute intermittent porphyria. However, if there is a porphyria reaction, it will take the form of an acute attack, which normally develops within days of taking the unsafe drug.
The norwegian porphyria centre napos has designed a. Drug prescription in patients with porphyria porphyria. Information in this database applies only to gene carriers of one of the acute forms of porphyria. Drug prescription in patients with porphyria porphyria for. Acute intermittent porphyria aip, variegate porphyria vp, hereditary. Acute intermittent porphyria aip is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase also known as porphobilinogen deaminase. An update of clinical management of acute intermittent porphyria. Drugs and porphyria acute porphyrias only information leaflet.
Sep 01, 2015 aip is the most common type of acute porphyrias in most of the countries worldwide. Many drug safety lists for acute porphyrias, largely based on. If there is no family history to guide the diagnosis, the different forms of acute porphyria are distinguished by characteristic patterns of porphyrin and precursor accumulation and excretion in plasma, urine. The prescription of drugs to a patient with acute porphyria is entirely at the risk of the physician in charge. The uk porphyria medicines information service ukpmis is provided in conjunction with the cardiff porphyria service provided by the department of. The norwegian porphyria centre napos has designed a database which references much of the available information about the safety of drugs in porphyria and draws on the expertise of many of those with a porphyria interest, including ourselves. The napos drug database porphyria for professionals. Red blood cell pbg deaminase levels that are about 50% of normal suggest acute intermittent porphyria. Aip is the most common type of acute porphyrias in most of the countries worldwide. Acute porphyria is a disorder that affects how your body makes red blood cells rbc.
Algorithm employed for the prediction of porphyrogenicity based on. The nordic drug database for acute porphyria european. Review the porphyria foundations aip drug database. People with an acute porphyria must take great care, as many medicines can trigger acute attacks. Those suffering from an acute porphyria aip, vp, adp or hcp can have attacks precipitated by medications. The porphyrinogenicity of the drugs are classified according to the newly revised swedish drug list for acute porphyria. A potentially porphyrogenic drug is not to be prescribed for a carrier of acute porphyria other than on urgent indication and where safer alternatives are unavailable. The inborn errors of heme biosynthesis, the porphyrias, are metabolic disorders, each resulting from the deficiency of a specific enzyme in the heme biosynthetic pathway figure 1. Establishing prescribing guidance for patients with acute porphyria is a very difficult task. Testing for urinary pbg that occurs at or near the time of symptoms will confirm the initial diagnosis of acute porphyria, except in patients who are already receiving hemin. A drug working group in epi european porphyria initiative has recently decided that this database shall be the platform for a european system. Never take a new medicine unless its been checked as suitable for people with porphyria, this includes. Acute intermittent porphyria is the most common form of acute porphyria in most countries.
American porphyria foundation safeunsafe drug database. Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Acute intermittent porphyria nord national organization. Acute intermittent porphyria can present with acute neurological andor gi symptoms. An acute attack could arise in them if they take dangerous medication. Acute intermittent porphyria is the common form of acute porphyria. We gratefully acknowledge the clinical impact of the evidencebased drug safety assessments provided on the comprehensive drug database for acute porphyria.
The drug database for acute porphyria european porphyria. Drug safety databases alberta canada porphyria society. Seven porphyrias are the result of a partial enzyme deficiency, and a gain of function. Dec 10, 2015 the porphyria foundations database contains expert assessments of the potential of drugs to provoke attacks of acute porphyria. Unsafe drugs complete list european porphyria network.
Attacks usually occur within 24 hours after exposure to a precipitating drug. Please contact ukpmis to be added to their database to receive your new copy each year. Safeunsafe drug database american porphyria foundation. Acute intermittent porphyria aip is a rare autosomal dominant metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. Only drugs known to be safe in porphyria can be prescribed for treatment, as many medications, including common sleeping pills and antibiotics can trigger acute attacks. Guide to drug porphyrogenicity prediction and drug. Never take a new medicine unless its been checked as suitable for people with porphyria, this includes overthecounter treatments, such as herbal therapies. The porphyria foundations database contains expert assessments of the potential of drugs to provoke attacks of acute porphyria. Children of a gene carrier for an autosomal dominant form of acute porphyria acute intermittent porphyria, hereditary. Your body needs a chemical called porphyrin to make heme, a part of rbc that carries oxygen. Reactions such as dizziness, feeling faint, allergies or shortlived skin rashes which may occur immediately or very soon after taking the drug are common after taking. With acute intermittent porphyria aip, an accurate, timely diagnosis is critical. Acute porphyria safe drug database, medications, ukpmis and napos.
Safe at low dose used intermittently, but one acute attack at high, prolonged dose drug metab disp 33. The information in this drug database for acute porphyria is meant to be used by health care professionals, even though it may also be of interest to patients. Treatment is aimed at getting rid of or managing your symptoms. These emergency room guidelines download pdf cover essential information for the emergency physician treating a patient in an acute porphyria attack, including common precipitating factors, typical presentation and other diagnostic clues, making the initial diagnosis, common sequelae and best practices for treatment. The napos drug database we in the international porphyria community understand the need to pool our expertise for the benefit of our patients. Medication use in acute porphyria should always be discussed jointly by patient and health care professional, and if in doubt, further advice should be obtained. The aim is to establish national versions of the drug database in more european countries. Drug safety precautions areessential in all patients with these forms of porphyria, but are. Acute intermittent porphyria aip is one of the liver hepatic porphyrias. Click on the link to view a sample search on this topic.
These emergency room guidelines download pdf cover essential information for the emergency physician treating a patient in an acute porphyria attack. The prescription of drugs to a patient with acute porphyria is. We in the international porphyria community understand the need to pool our expertise for the benefit of our patients. Givlaari is a treatment used to prevent acute hepatic porphyria ahp in adults. Overall, porphyria cutanea tarda is the most common type of porphyria. Acute intermittent porphyria genetic and rare diseases. Drugs may trigger an acute attack of porphyria in many ways, most of. The database takes into account the varying vulnerability to drugs among the gene carriers of acute porphyrias. The information in this database contains some degree of uncertainty and is meant to be a guide for health care professionals.
Nov 11, 2015 access to this database is free of charge. A safe drug list and details of the safe drug databases can be found on this page. Jun 19, 2007 preventive measures in prescription of porphyrogenic drugs to a carrier of acute porphyria. Urinary pbg levels are substantially increased 20200 mgl in patients with acute attacks of aip and other acute porphyrias. Pubmed is a searchable database of medical literature and lists journal articles that discuss acute intermittent porphyria. The database provides guidance based on a very careful. American porphyria foundation apf drug safety database this database contains expert assessments of the potential of drugs to provoke attacks of acute porphyria and is. The welsh medicines information centre wmic offers a specialist advisory service on the safe use of drugs in porphyria.
Nov 08, 2019 acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be severe. Feb 03, 2020 acute porphyria is a disorder that affects how your body makes red blood cells rbc. Pathophysiology, pharmacology and treatment of acute. Acute intermittent porphyria aip, swedish porphyria, pyrroloporphyria, intermittent acute porphyria is an autosomal dominant disorder of low penetrance resulting from a partial. This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.
Acute intermittent porphyria aip, variegate porphyria vp, hereditary coproporphyria hcp, or ala dehydratase deficiency porphyria. Drug safety in acute porphyriadatabase contains expert assessments of the. This database is a collaborative work of the norwegian and swedish national porphyria centres. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms. The aim is to establish national versions of the drug database. Acute porphyrias merck manuals professional edition. The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. The information in this database contains some degree of uncertainty and is. Preventive measures in prescription of porphyrogenic drugs to a carrier of acute porphyria.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Acute attacks are seen only in the following forms of porphyria, which are known collectively as the acute porphyrias. Porphyria genetic and rare diseases information center. Drug safety precautions areessential in all patients with these forms of porphyria, but are unnecessary in the other forms of porphyria porphyria cutanea tarda and the erythropoietic porphyrias. Yet they are still at risk of an acute attack even during childhood. You can search this database by the drug class, drug type, generic name, brand name, or by suggested safety status. If you have any queries regarding safe drugs please contact ukpmis as noted above. The prescription of drugs to a patient with acute porphyria is entirely at the risk of. This does not apply to people with pct, epp, xlepp or cep.
Congenital erythropoietic porphyria cep erythropoietic protoporphyria epp porphyria cutanea tarda pct patient organizations. American porphyria foundation apf drug safety database this database contains expert assessments of the potential of drugs to provoke attacks of acute porphyria and is intended for use by health care professionals. Acute intermittent porphyria porphyria for patients. An update of clinical management of acute intermittent porphyria elena pischik,1,2 raili kauppinen,1 1porphyria research unit, division of endocrinology, department of medicine, university central hospital of helsinki, helsinki, finland. We gratefully acknowledge the clinical impact of the evidencebased drug safety. Activity of the enzymes alad and pbg deaminase in the red blood cells is readily measurable and can be helpful for establishing the diagnosis in aladdeficiency porphyria and acute intermittent porphyria, respectively. The database contains expert assessments of the potential of drugs to provoke attacks of acute porphyria and is intended for use by health care professionals.
The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and last a short time. The database provides guidance based on a very careful evaluation of international clinical experience, published case reports, previously published drug lists, and theoretical considerations. The uk porphyria medicines information service ukpmis is provided in. Porphyria prevents your body from creating enough enzymes to control the process, and porphyrin builds up. Emergency room guidelines for acute porphyrias american. If you have attacks of acute porphyria you may be familiar with the drug panhematin. Moore, phd from the department of community health, university of cape town, cape town, south africa, and. This database contains suggested safety information about the interaction of specific drugs in patients with porphyria.
An update of clinical management of acute intermittent porphyria elena pischik,1,2 raili kauppinen,1 1porphyria research unit, division of endocrinology, department of medicine, university central. Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. An update of clinical management of acute intermittent. Moore, phd from the department of community health, university of cape town, cape town, south africa, and the department of medi cine, university of glasgow, glasgow, scotland the thrust of this chapter will be on drug therapy in the acute porphyrias. Acute intermittent porphyria aip, swedish porphyria, pyrroloporphyria, intermittent acute porphyria is an autosomal dominant disorder of low penetrance resulting from a partial deficiency of porphobilinogen deaminase pbgd, also known as hydroxymethylbilane synthase hmbs, previously called uroporphyrinogen i synthase, the third enzyme in the heme biosynthetic pathway. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors. Patients may have anxiety, confusion, autonomic instability manifested as hypertension or. A potentially porphyrogenic drug is not to be prescribed for a carrier of acute porphyria other than on. In fact, this drug could be extremely dangerous for acute porphyria sufferers to take. A patient case description and recommendations from the current literature. This information comes from a database called the human phenotype ontology.
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