Acute hepatic porphyria: what it is and how to treat it
Acute Hepatic Porphyria (AHP) is a rare disease that can manifest itself differently from person to person. It has a wide range of debilitating symptoms that are often similar to those of other diseases, making diagnosis difficult
Knowing how to recognise certain signs and being aware that there are people more at risk of falling ill, as well as preventive remedies and treatment centres to rely on, is an important step in combating this disease.
On livingwithporphyria.eu/en you can find a lot of useful information to understand the complex nature of this disease and the ideal path to a timely diagnosis and a better quality of life.
Acute Hepatic Porphyria, what it is
Acute Hepatic Porphyria is a very rare genetic disorder due to congenital defects in metabolism, particularly of the heme group enzyme.
These deficits cause a harmful accumulation of porphyrins in the liver and bone marrow that trigger a wide range of very debilitating symptoms.
Porphyria includes four diseases
- acute intermittent porphyria (the most common)
- variegated porphyria
- hereditary coproporphyria
- hereditary delta-aminolevulinic acid dehydratase deficiency (extremely rare).
In 83% of cases, patients are women, usually aged between 20 and 40 years.
What causes Acute Hepatic Porphyria
Acute Hepatic Porphyria usually causes acute episodes of severe, unexplained abdominal pain, accompanied by a combination of the following symptoms
- muscle weakness, fatigue
- vomiting, nausea, dark/reddish urine
- confusion, anxiety, hallucinations, depression
- numbness, paresis, convulsions
- rapid heartbeat and high blood pressure
- skin lesions with blisters, erosions or ulcers on sun-exposed skin (only in variegated porphyria and hereditary coproporphyria).
These acute attacks can last for days and, in some cases, even be fatal.
In other individuals, however, AHP can also show itself with chronic debilitating symptoms such as anxiety, nausea, pain and fatigue that occur daily.
The triggering factors are many and include certain medications, alcohol, smoking, fasting, but also stress and hormonal changes.
How to diagnose Acute Hepatic Porphyria?
Many of the signs and symptoms of Acute Porphyria Hepatica are strikingly similar to those of other more common conditions, such as irritable bowel syndrome, Crohn’s disease, endometriosis, fibromyalgia and certain psychiatric disorders.
These similarities very often make it difficult to obtain a correct diagnosis quickly, with the risk of intercepting different specialists and accumulating delays in treatment, or worse, running into incorrect treatment that can lead to serious consequences for the patient.
Improving the diagnosis of the disease is, however, possible by relying on a specialised centre so as to overcome the problems associated with the initial phase of the diagnostic process, as well as speeding up the time taken to perform examinations, surveillance and treatment of porphyria.
Read Also:
Emergency Live Even More…Live: Download The New Free App Of Your Newspaper For IOS And Android
What Is Porphyria? Symptoms, Diagnosis And Treatment Of This Genetic Disease
Pinworms Infestation: How To Treat A Paediatric Patient With Enterobiasis (Oxyuriasis)
Rare Diseases: Bardet Biedl Syndrome
Rare Diseases: Positive Results Of A Phase 3 Study For The Treatment Of Idiopathic Hypersomnia
Rare Diseases: Fibrodysplasia Ossificans Progressiva (FOP), A Study From Pennsylvania University
Intestinal Infections: How Is Dientamoeba Fragilis Infection Contracted?
Gastrointestinal Disorders Caused By NSAIDs: What They Are, What Problems They Cause