Introduction
A collection of illnesses collectively referred to as porphyria is a relatively common disease. Porphyria derives from the Greek word porphura, which means purple. This is because the red blood cells, which contain porphyrins, give blood its red color. Protoporphyria hepatic disease is a group of uncommon hereditary illnesses that can cause attacks that can be fatal and, in some cases, chronic pain and other symptoms that make it difficult for sufferers to lead regular lives. The disease starts in the liver and eventually impacts the neurological system, resulting in symptoms that spread throughout the body. It occurs due to the collection of harmful substances that accumulate in the liver and subsequently enter the bloodstream, where they come into contact with nerves and symptoms develop.
Why Is the Liver Important?
The liver is a crucial organ that performs various tasks for the body. It is on the right side of the body, under the rib cage. The liver performs a variety of tasks, including:
- Producing bile to aid in digesting.
- Converting, consuming, and drinking into nutrients for the body.
- Removing toxic elements from the blood.
What Pathophysiology Is Behind Protoporphyria Hepatic Disease?
An enzyme in the body is required to produce heme. When this enzyme is deficient, it causes porphyria (a component of hemoglobin in the blood). The lack of specific enzymes during producing heme results in other substances going unused and accumulating in bodily tissues. When these residual substances, also known as porphyrin precursors, accumulate, they become poisonous. They accumulate first in the liver.
Genetic mutations cause protoporphyria hepatic disease, but having a gene mutation seldom results in symptoms. Most frequently, the first time is brought on by hormone changes associated with puberty. Some drug usage, heavy alcohol use, severe calorie restriction, and illnesses that put a lot of stress on metabolism are additional risk factors.
The person's liver in protoporphyria hepatic disease lacks the enzymes required to digest additional byproducts (such as porphyrin precursors) produced by the heme synthesis cycle. As a result, liver tissues begin to accumulate residual porphyrin precursors. These residual products must build up to a particular point before the nervous system starts to experience symptoms.
What Are the Symptoms of Protoporphyria Hepatic Disease?
Protoporphyria hepatic disease can induce various symptoms that resemble those of other illnesses, and some individuals with a faulty gene may not even exhibit any symptoms. Those who exhibit symptoms may encounter severe, frequently unpredictable attacks that include excruciating abdominal (belly) discomfort. In between attacks, some people may also have long-lasting symptoms, including pain. In addition, stomach ache also occurs in some people. Some of these signs could be:
- The numerous symptoms can cause distress and tiredness on a physical, mental, and emotional level. This can impact all facets of life, including general physical comfort, the capacity for consistency at work, and upholding a healthy life. Patients may experience many nerve pain symptoms, including abdominal discomfort, chest pain, backache, and pain in arms and legs. In the digestive system, nerves become damaged, and it can cause gastrointestinal symptoms like nausea and vomiting, indigestion, constipation, and diarrhea.
- Central nervous system symptoms include anxiety, insomnia, depression, delirium, hallucinations, and seizures. Muscle weakness is one sign that the peripheral nervous system may malfunction. Others include tingling and numbness, fatigue, lack of sensation, muscle wasting, and respiratory immobility.
- Heart palpitations and elevated blood pressure are examples of autonomic nervous system symptoms.
- People with inherited porphyria may experience cutaneous sensitivity to sunlight, stinging, rash, pigmentation, and scarring.
How to Diagnose Protoporphyria Hepatic Disease?
It is an uncommon disease with a wide range of symptoms that can mimic those of other, more well-known disorders, so diagnosing the condition can be challenging. Symptoms can mimic gastrointestinal (digestive system) issues and cardiac, muscle, gynecological, neurological, psychological, or emotional issues. They can also appear to be gastrointestinal (digestive system) in nature. People with protoporphyria hepatic disease are frequently given the wrong diagnosis since their symptoms cover a broad spectrum. Before learning the precise nature of their condition, many people visit numerous doctors for years. People with severe abdominal discomfort and at least one of the other mentioned symptoms may want to schedule a consultation with a doctor to start the examination process. Testing can comprise a urine test that measures two things:
- The levels of the porphyrin precursors.
- The levels of porphyrins can be much higher than usual in affected persons. These tests have a higher degree of accuracy when done during or immediately after an attack.
A genetic test can also be used to identify family members at risk and to support the confirmation of diagnosis. The genetic test is practicable. A genetic test has the following advantages:
- First, it helps to establish the diagnosis of protoporphyria hepatic disease.
- Identifying the type of condition.
- Identifying the particular genetic mutation so that family members can be screened.
How to Treat Protoporphyria Hepatic Disease?
The condition cannot be cured, although its symptoms can be controlled. The attacks can be treated or reduced with certain medications given the green light by the United States Food and Drug Administration. Painkillers and glucose supplements may also be used in disease management.
What Are the Potential Complications of Protoporphyria Hepatic Disease?
During an acute attack, symptoms of the central nervous system, such as anxiety, hallucinations, and seizures, are typically transient. However, peripheral nervous system symptoms like paralysis and weakened muscles can occur more frequently, and a severe attack can leave permanent damage. Additionally, an excess of porphyrin precursors might harm several organs over time, resulting in:
- Persistent hypertension (high blood pressure).
- A chronic liver condition.
- The renal disease is chronic (long duration or permanent).
- First-stage liver cancer.
- Anxiety and depression.
Conclusion
Protoporphyria hepatic disease is an abnormal condition of the liver. Porphyria is an essential component in heme synthesis. When the enzyme that utilizes porphyria is lacking, porphyrin accumulates in the body and causes various symptoms. These produce frequent attacks on individuals. These attacks are short-lived and can be fatal. Genetics plays an essential role in the occurrence of disease. Treatment is not available, but an approach to a patient can be symptomatic management.
