Porphyria

Porphyria is the name of a rare illness that’s actually a group of disorders that affect the blood and the formation of hemoglobin.

Porphyria

Porphyria is a group of rare illnesses that affects the production of heme (the building block of hemoglobin) in the blood, which carries the oxygen to the body.

Porphyria has two general types, which are acute and cutaneous porphyria.

Causes and risk factors of porphyria

• When heme isn’t produced as it should, the deficiency leads to the buildup of porphyrins that cause the symptoms.
• Most porphyria types occur due to a genetic problem.
• Some types of porphyria, which are called “acquired”, occur due to certain triggers, including iron overload, hormonal changes during the period, viral infections (like hepatitis C or HIV), smoking, and heavy alcohol consumption.
• The risk of porphyria increases due to the following triggers: physical or emotional stress, dieting or fasting, exposure to sunlight, recreational drugs, and certain medicines (like sedatives and birth control pills).

Symptoms of porphyria

Acute porphyria mainly affects the nervous system and causes the following:

• Mental changes like confusion, anxiety, or hallucinations.
• Seizures.
• Severe pain in the chest, abdomen, back, or legs.
• Red or brown urine.
• Irregular heartbeats.
• Hypertension.
• Breathing issues.
• Pain, tingling, weakness, or paralysis in the muscles.
• Digestive issues, such as nausea, vomiting, and constipation.
• Acute porphyria can lead to dehydration, long-term pain, chronic kidney failure, liver damage, and liver cancer, and it also can be life-threatening.

Symptoms of cutaneous porphyria:

• Sudden redness and swelling in the skin that cause pain.
• Itching.
• Blisters on the affected areas, which typically are the face, arms, and hands.
• Thin skin and skin discoloration.
• Sensitivity to the sun.
• Increased hair growth in the affected area.
• Red or brown urine.
• Cutaneous porphyria can lead to permanent skin damage, skin infections, scars, and increased risk of liver damage or cancer.

Diagnosis of porphyria

• Physical exam.
• Blood, urine, and stool tests.

Treatment of porphyria

• Treatments for porphyria include medicines and depend on the type.
• Avoiding the triggers.