Porphyria: causes, symptoms, and treatment & bull; hello healthy

Definition

What is porphyria?

Porphyria, or in Indonesian called porphyria, is a group of rare hereditary blood disorders characterized by the inability to produce heme, a component of hemoglobin (the protein in red blood cells that carries oxygen). Heme is made of two components of porphyrin (a naturally occurring organic compound in the body) that are bound to iron. Heme plays an important role in carrying oxygen and also provides color to red blood cells. Heme is also found in myoglobin, which is a protein in the heart and muscle bones.

To produce heme, the body needs to go through several steps. However, in people with porphyria, the body lacks certain enzymes needed to complete this process. As a result, porphyrin collect in the tissues and blood. This can cause a variety of symptoms, ranging from mild to severe.

How common is porphyria?

Incidence rate porphyria not clearly known. Estimated porphyria attacks one to 100 out of every 50,000 people. This figure varies across the world.

However, this condition can be treated by reducing the risk factors. Talk to your doctor for more information.

Signs and symptoms

What are the signs and symptoms of porphyria?

Depending on the type, the signs and symptoms of porphyria may vary. Some of the symptoms of porphyria are abdominal pain and urine that is reddish brown in color. These two symptoms are the most common symptoms. It is caused by porphyrin buildup and usually occurs after an attack.

Some of the common signs and symptoms associated with liver disease include:

Pain in the limbs
Nervous disorders
Hypertension (high blood pressure)
Tachycardia (fast heartbeat)
Electrolyte imbalance

Symptoms associated with the disease erythropoietic, include:

Extreme skin sensitivity to light
Anemia (when the body doesn't produce enough red blood cells)
Changes in skin pigmentation
Restless or restless behavior when exposed to sunlight

When should I see a doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent other medical emergencies. For that, talk to your doctor to prevent this serious condition.

If you have any signs or symptoms above or any other questions, please consult your doctor. Everyone's body is different. Always consult a doctor to treat your health condition.

Cause

What causes porphyria?

Porphyria is a genetic disease. According to The Journal of Family Planning (JFP), most types of porphyria are autosomal dominant, meaning that you only need a copy of the gene from one parent (father or mother) to pass on the disease. However, certain factors can trigger symptoms, known as "seizures", including:

Drugs
Infection
Alcohol use
Certain hormones, such as estrogen
Sunlight

Triggers

What puts me at risk for porphyria?

There are many trigger factors that can potentially lead to porphyria, namely:

Certain medications (barbiturates or sulfonamide antibiotics, birth control pills, or some psychoactive drugs)
Chemicals
Diet or fasting
Smoke
Infections or other diseases
Liver disease
Psychological stress
Drink alcohol
Hormone levels during menstruation
Sun exposure
Excess iron in the body

Diagnosis and Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How is porphyria diagnosed?

If your doctor suspects you have this condition, a physical exam and several tests will be ordered by your doctor. Some of the tests that you will probably run for porphyria, among others:

Urine test

If you have porphyria acutely, urine tests can show an increase in the levels of two substances, viz porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins.

Blood test

If you have cutaneous porphyria, a blood test can show an increase in the level of porphyrin in your blood plasma.

Stool sample test

Analysis of a stool sample may show elevated levels of porphyrin that may not be detectable in the urine sample. This test can help doctors determine a specific type porphyria that you experience.

How is porphyria handled?

There are several treatment options for porphyria, depending on the level of pain, namely:

Acute porphyria

Treatment for acute porphyria focuses on immediate management of symptoms and preventing complications. You may need hospitalization in serious cases. Treatments can include:

Stopping any medication that might be triggering the symptoms
Medications to control pain, nausea, and vomiting
Direct handling of infections or other diseases that may be causing symptoms
Sugar (glucose) intravenously or sugar taken by mouth, if possible, to maintain adequate carbohydrate intake
Intravenous fluids to fight dehydration
Injections of hemin, a treatment in the form of heme, to limit the body's production of porphyrin.

Cutaneous porphyria

Care for cutaneous porphyria focusing on reducing sun exposure and the amount of porphyrin in the body to eliminate symptoms, these can include:

Blood draw (plebotomy).Taking a certain amount of blood from one of the blood vessels reduces iron in the body, which reduces porphyrin.
Treatment.The medication for malaria, hydroxychloroquine (Plaquenil), or less often, chloroquine (Aralen), can absorb excess porphyrin and help the body excrete it more quickly.
Beta carotene.Long term care for cutaneous porphyrias may include a daily dose of beta carotene. Beta carotene can increase skin tolerance to sunlight.
Reduce or eliminate triggers.Triggers, such as certain medications or too much sun, that trigger illness, should be reduced or eliminated whenever possible, with a doctor's guidance.
Vitamin D.Supplements may be recommended to replace vitamin D deficiency caused by avoiding sunlight.

Prevention

What can I do to prevent and treat porphyria?

Unfortunately, porphyria can't be prevented. However, symptoms can be relieved by avoiding or eliminating triggers. Factors that should be completely avoided include: