Home Blood problems Intermittent water porphyria: symptoms and treatment

Intermittent water porphyria: symptoms and treatment

by Alivia Nyhan
Published: Last Updated on

One of the essential functions of the Blood in all living beings is to collect the oxygen that is inhaled by the lungs and take it to the cells, where it will be used as fuel to carry out all its metabolic processes. This is achieved thanks to hemoglobin, a protein that captures oxygen thanks to the presence of iron in its structure. An alteration of any of the components that make up hemoglobin can compromise its function widely and, due to its importance throughout the body, cause quite significant symptoms. In this FastlyHealarticle, we will introduce you to one of the diseases that affect the integrity of red blood cells and that has potentially quite serious consequences, acute intermittent porphyria: symptoms and treatment.

Acute intermittent porphyria: what it is and causes

Name of acute intermittent porphyria, a group of diseases known that affect the structure of one of the essential components of red blood cells, cells responsible for transporting blood from the lungs to the tissues, significantly affecting its function.

This is a hereditary disease, and although it can affect people from anywhere in the world, it does have a higher or lower prevalence depending on the country and ethnicity. When the onset of symptoms associated with porphyria is rapid and lasts a few days or weeks but reappears with some regularity, it is referred to as acute intermittent porphyria, one of the most dangerous types of porphyria.

The part of red blood cells responsible for transporting oxygen in hemoglobin, a pigment that gives this cell and blood its characteristic color, is made up of several proteins, in addition to iron. Porphyrias occur when molecules that bind to iron, known as porphyrins, have their formation process altered due to a genetic mutation that is generally inherited. This makes the red blood cells that are formed defective and therefore unable to carry out their function correctly, thus causing the appearance of the symptoms of the disease.

Acute intermittent porphyria: symptoms

Acute intermittent porphyria usually causes specific mild symptoms that herald the early onset of the more severe symptoms of the disease. This stage is known as the prodromal phase and is characterized by:

The main symptom of the crisis unleashed by acute intermittent porphyria is severe and constant abdominal pain that extends to the back and thighs, which is very difficult to control with analgesics and is not accompanied by any physical alteration in the affected region. Vomiting and constipation are other pretty common symptoms, and seizures are likely.

A severe possibility of this disease is that of the affection of the nerves, which usually occurs in cases that last longer and can produce muscle weakness that progresses to paralysis, which generally begins as difficulty in performing movements that start from the part of the limbs closest to the trunk and extends little by little. Other consequences of the nervous condition, which can even end up causing death, are:

Cardiovascular symptoms are present in 80% of cases and are accompanied by sweating, restlessness, and tremors. Another inconstant symptom of porphyrias is the reddish or wine-red color of the urine due to the presence of an excess of proteins that are excreted.

Acute intermittent porphyria: treatment

The doctor cannot use only the disease symptoms to diagnose porphyrias because they can be unspecific. Still, it can guide their diagnosis if a family member suffers from porphyria. The tests of feces and urine to detect particular protein excesses can confirm the diagnosis.

Once the diagnosis is confirmed, the patient is admitted to the hospital emergency department to start his treatment, based on the replacement of hemoglobin to replace the defective one by intravenous administration of hemin, a drug similar to the heme group. Of hemoglobin.

On the other hand, symptoms should be controlled during the patient’s recovery as they are highly disabling, particularly pain. Conventional pain relievers cannot relieve it, and relatively high doses of opioid pain relievers are usually required. In severe cases, you can even choose to sedate the patient.

Acute intermittent porphyria: contraindicated medications

The digestive symptoms are preferably controlled with ondansetron. When seizures accompany the porphyria crisis, it is highly recommended to avoid the use of anticonvulsants as much as possible since they can aggravate the development of porphyria. Treatment should focus on implementing hemin to control seizures once minimum stable levels are reached.

This article is merely informative, at FastlyHeal .com we do not have the power to prescribe medical treatments or make any type of diagnosis. We invite you to see a doctor in the case of presenting any type of condition or discomfort.

If you want to read more articles similar to Porphyria intermittent water: symptoms and treatment , we recommend that you enter our category of Blood, heart and circulation .

 

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