porfírica

Porphyria refers to a group of rare genetic disorders resulting from deficiencies in enzymes involved in the production of heme, a vital component of hemoglobin. These enzyme deficiencies lead to a buildup of porphyrins and porphyrin precursors in the body, which can cause a wide range of symptoms.

The disorders are generally categorized into two types: acute and cutaneous. Acute porphyrias primarily affect the nervous system, causing sudden and severe attacks that can include abdominal pain, vomiting, tachycardia, hypertension, and neurological symptoms like muscle weakness or confusion. These attacks can be triggered by medications, hormones, dieting, or stress. Chronic forms like acute intermittent porphyria are not typically associated with skin problems.

Cutaneous porphyrias, on the other hand, mainly affect the skin. The accumulation of porphyrins makes the skin extremely sensitive to sunlight. Even brief exposure can lead to blistering, severe pain, swelling, and scarring. The most common cutaneous form is porphyria cutanea tarda, which can sometimes be acquired later in life due to factors like liver disease.

Diagnosis involves specialized blood, urine, and stool tests to detect elevated levels of porphyrins and their precursors. Treatment is tailored to the specific type of porphyria and may involve avoiding triggers, glucose loading, or intravenous heme therapy for acute attacks. For cutaneous forms, treatment focuses on sun protection and may include regular phlebotomy to reduce iron levels.

While there is no cure, most forms of porphyria can be managed effectively with proper medical care and lifestyle adjustments to prevent symptoms and improve quality of life.