Porphyria: Risk factors, Causes, Treatment and Diagnosis

What is Porphyria? 

A uncommon set of inherited blood illnesses known as porphyria exist. These illnesses result in improper production of heme, a substance needed to form hemoglobin, the oxygen-carrying protein in red blood cells. Porphyrin, an organic molecule that occurs naturally in the body, is bonded to iron to form heme. Red blood cells (RBCs) get their color from heme, which also aids in oxygen transport. Myoglobin, a protein present in the heart and skeletal muscles, also contains it.



Patients with porphyria are deficient in the enzymes needed to finish the production of heme. As a result, porphyrin builds up in the blood and tissues, resulting in a variety of symptoms. The symptoms change depending on which enzyme is lacking in the body. The most typical symptoms include stomach ache, rash or blisters brought on by light sensitivity, and muscle issues.


Porphyrias are typically hereditary, though they can occasionally be acquired. Except for congenital erythropoietic porphyria (CEP), which is autosomal recessive, other kinds of porphyrias are inherited as autosomal dominant disorders. While some are persistent and generate less severe symptoms, others induce severe and acute symptoms.




History

Porphyrias have been detected in all races and in multiple ethnic groups on every continent, including Africans, Asians, Aboriginal Australians, Caucasians, Peruvians, Mexicans, Native Americans, and Sami. There are high incidence reports of acute intermittent porphyria (AIP) in areas of India and Scandinavia. More than 200 genetic variants of AIP are known, some of which are specific to families, although some strains have proven to be repeated mutations.


The underlying mechanism was first described by Felix Hoppe-Seyler in 1871, and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889. The links between porphyrias and mental illness have been noted for decades. In the early 1950s, patients with porphyrias (occasionally referred to as “porphyric hemophilia”) and severe symptoms of depression or catatonia were treated with electroshock therapy.


Prevalence of Porphyria 

The combined prevalence of the acute porphyria is approximately 5 cases per 100,000 persons. Porphyria cutanea tarda is the most common porphyria, with a prevalence of 1 in 10,000. The most common acute porphyria, acute intermittent porphyria, has a prevalence of approximately 1 in 20,000, and the prevalence of the most common erythropoietic porphyria, erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. Congenital erythropoietic porphyria is extremely rare, with an estimated prevalence of 1 in 1,000,000 or less. Fewer than 200 cases have been reported in the literature. 


A specialist center network (European Porphyria Network [EPnet]) estimated the risk of recurrent attacks at 4% of porphyria patients in Europe. The incidence was around 0.13 case per million per year in most European countries, except Sweden, where it was 0.51 case per million per year. 


Types of Porphyria 

There are several different types which are classified into two categories: Hepatic and erythropoietic. Hepatic forms of the disorder are caused by problems in the liver and are associated with symptoms such as abdominal pain and problems with the central nervous system. Erythropoietic forms are caused by problems in RBCs.


Hepatic porphyria are of five types:


Acute intermittent (AIP)

Hereditary coproporphyria (HCP)

Variegate porphyria

Aminolevulinic acid dehydratase deficiency (AVADDP)

Porphyria cutanea tarda (PCT)

PCT is the most common type of porphyria. It is associated with extreme sensitivity to sunlight.


Erythropoietic porphyria is associated with light sensitivity. There are two types:


1.Muroporphyria


2.Protoporphyria


Risk factors

In addition to genetic risks, environmental factors may trigger the development of signs and symptoms in porphyria. When exposed to the trigger, your body’s demand for heme production increases. This overwhelms the deficient enzyme, setting in motion a process that causes a buildup of porphyrins.


Examples of triggers include:


Exposure to sunlight

Certain medications, including hormone drugs

Recreational drugs

Dieting or fasting

Smoking

Physical stress, such as infections or other illnesses

Emotional stress

Alcohol use

Menstrual hormones- acute porphyria attacks are rare before puberty and after menopause in women

Causes

The most types of porphyria are autosomal dominant, meaning that a person only inherits the abnormal gene from one parent. However, certain factors may trigger symptoms, known as “attacks.” Factors include:


Drugs

Infection

Alcohol use

Certain hormones, such as estrogen

Sunlight

Symptoms

Symptoms depend upon the type of porphyria. Severe abdominal pain is present in all types, as well as urine that is reddish-brown in color. This is caused by the build-up of porphyrins, and typically occurs after an attack.


Symptoms associated with hepatic disease include:


Limb pain

Neuropathy

Hypertension

Tachycardia (fast heartbeat)

Electrolyte imbalance

Symptoms associated with erythropoietic disease include:


Extreme skin sensitivity to light

Anemia (when the body does not produce enough new RBCs)

Changes in skin pigmentation

Erratic behavior related to sun exposure

Diagnosis and test

Blood, urine, and stool tests are performed to diagnose porphyria. The best time to be tested is during an outbreak of symptoms or around the time of them.

Sometimes multiple tests will be required before the diagnosis of a particular type of porphyria is possible. Because porphyria often runs in families, other family members can be tested and counseled after a positive diagnosis.

Treatment and medications

There is no cure and the treatment focuses on managing symptoms. Most cases are treated with medication.


Treatments for hepatic disease include:


Beta blockers (Atenolol) to manage blood pressure

High carbohydrate diet to aid recovery

Opioids for pain management

Hematin to shorten attacks

Hepatic disease is treated with:


Tenolol, a beta blocker, is used to control blood pressure


Diet high in carbohydrates for healing


Opioids for treating pain


Hematin to reduce attack duration


The following are some erythropoietic illness treatments:


Supplemental iron for anemia


Transfusions of blood


Transplanting bone marrow


Protection against porphyria


It can't be stopped. However, by avoiding or removing triggers, symptoms might be lessened.


The following elements should be eliminated:


Drug use for pleasure


Mental tension


Heavy alcohol use


Some antibiotics


The goal of erythropoietic symptom prevention is to minimize exposure to light through:


Avoiding intense sunlight


Wearing protective clothes outside, such as long sleeves, caps, and other accessories


Requesting protection during operation - phototoxic damage can happen in uncommon circumstances. Infection arises when light penetrates the organs in this manner.

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