Pcan concern people of every sex and age, but the most affected are the women between 20 and 40 years old. Let’s talk about Pacute hepatic orphyria or AHP (acronym for Acute Hepatic Porphyria), a set of rare and complex genetic diseasescharacterized by potentially fatal attacksi but, in some cases, also from chronic debilitating symptoms which have a very heavy impact on the quality of life, compromising any activity, from sleep to the ability to work and socialize.
If acute manifestations can indeed cause serious problems in many parts of the body and often require hospitalization, i Chronic symptoms often force those who suffer from them to be absent from work or from the schooleffectively preventing you from living a normal life in everyday life.
PAcute hepatic orphyria: what is the origin
We generally speak of Acute Hepatic Porphyria, too if there are 4 types of AHP: the most common is Acute Intermittent Porphyria (AIP), followed by Variegated Porphyria (VP), Hereditary Coproporphyria (HCP) and the rarer ALAD deficiency Porphyria (ADP).
At the origin of the pathology is the malfunction of one of the enzymes of the heme pathwaya compound essential for the organism and necessary for liver to function properly. In the liver the heme pathway is controlled by a enzyme called Alas1: when its activity increases, the malfunctioning enzyme cannot keep up and this causes a accumulation of toxins in the liver calls aminolevulinic acid (ALA) And porphobilinogen (PBG). They are exactly these toxins that, once released throughout the body, end up cause sudden acute attacks or anyway a wide range of symptoms.
PAcute hepatic orphyria: how it manifests itself
Acute hepatic porphyria forces you to deal with episodes of very strong and unexplained abdominal painwhich can occur together to other disorders of various types, including feeling tired and weak, anxiety and confusion, skin lesions but also cardiovascular problems like a rapid heartbeat.
Very different symptoms but above all similar to those of many other pathologies, gastrointestinal, gynecological, neurological or neuropsychiatric. In fact, it is not uncommon for disorders caused by acute hepatic porphyria are mistaken for those of renal colic, a hernia and even for the symptoms of an epileptic seizurewhich is why there disease is often very difficult to detect and those who suffer from it can wait years before receiving a correct diagnosis.
The importance of a timely diagnosis
Although AHP is a lifelong disease, it is important to know that there are strategies that can be adopted to reduce the possibility of acute attacks, be able to manage disorders and be able to count thus on a better quality of life. Get one However, timely diagnosis is essential. Not only to get better again, but also to avoid complications that can arise from incorrect assessments and from unnecessary surgeries or medical procedures, as well as to know what may be the main triggering factors. Although they can be very variable from person to person, some do in fact exist triggers That can trigger the onset of attacks. Among these, alcohol, smoking and stress but also one drastic diet, taking certain types of medications or hormonal changessuch as for example fluctuations in estrogen and progesterone levels in the weeks preceding the start of the menstrual cycle.
How is AHP diagnosed?
Given the complexity of the disease, the first useful step in case of suspicious symptoms is to contact to specialized centers (the list is available on the website www.centriporfiriaepaticaacuta.it/lista-centri/) evaluating together with a specialist the use of tests that can facilitate the diagnosis. The urine testfor example, can help evaluate levels of PBG (porphobilinogen), ALA (aminolevulinic acid) and urinary porphyrins. For confirm the diagnosis or determine the specific type of AHPit is necessary to resort instead to the genetic test performed with a blood or saliva sample. Since this is an inherited genetic disease, genetic testing may be recommended by your doctor also to family members: Although most people with an altered gene may never experience any symptoms, Knowing your genetic risk can help you make informed lifestyle decisions in order to prevent attacks and complications of the disease.
PAcute hepatic orphyria: why it is important to talk about it
Raise awareness about Acute hepatic porphyria and its more complex aspects it is also important to limit the psychological impact that the disease can have on everyday life. As well as dealing with debilitating symptoms and living with the fear of a possible acute attackpeople with In fact, AHPs often struggle to be understood by those around them. Mmany patients say, for example, like the diffuse, acute abdominal pain, in many cases a prelude to potentially lethal crises, it comes often misunderstood or worse yet trivialized, so much to be reduced to a common ‘stomach ache’. Also if rare and characterized by symptoms painful similar to those of other diseasestheAHP, on the other hand, is a genetic disease which can disrupt daily life and which only a correct and timely diagnosis can help manage.
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AS1-ITA-00222 12/2025
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