Porphyrias - Symptoms & Treatment

Porphyria is a class of inherited disorders involving aberrancies in the production of heme pigments. Porphyrias are adquired diseases which arises from an abnormal metabolism of heme biosynthesis pathway. The main causes are enzyme deficiencies which lead to heme pathways intermediates deposition. Partial or integral deficiency of one of these enzymes result in diferents clinical pictures. We will focus our colloquium mainly on clinical grounds. All living things including wholesome people produce prophyrins. Our bodies transform two simple substances, ( ALA ) and (PBG) known as porphyrin precursors, into more complicated substances called porphyrins. These are then converted from one type of porphyrin to the next, in a kind of chain reaction, or pathway, and with the help of iron form Haem. Heam is a red organic compound present in haemoglobin, the colouring matter of the red corpuscles of the blood. Specific protein known as an enzyme entire each step on the pathway to produce Haem. Porphyria, a special enzyme is deficient, and this is why prophyrins accrue. Porphyrias are a number of different diseases, each caused by a specific preternaturalness in the heme production process.

Most porphyrias are hereditary. All people having a specific porphyria have a deficiency of the same enzyme. The outcome is a deficiency or inactivity of a specific enzyme in the heme production process, with resulting accumulation of heme precursors. The three most common porphyrias are porphyria cutanea tarda, acute sporadic porphyria, and erythropoietic protoporphyria. Signs and symptoms rarely begin before puberty. The initial and plebeian manifestation is abdominal pain, which can be diffuse or localized, colicky. It is caused by an variated autonomic activity. Peripheral neuropathy is principally motor, beginning in proximal muscles, more often in the arms. Cranial nerves manifestations may result to optic nerve atrophy. There are two major groups of porhyrias first is hepatic and erythropoietic porphyrias and Variegate Porphyria and Porphyria Cutanea Tarda.

Causes of Porphyrias

Common causes of Porphyrias

• Autosomal dominant.

Symptoms of Porphyrias

Common Symptoms of Porphyrias

• Red urine.
• Sensitivity to sunlight .
• Skin swelling..
• Photodermatitis.
• Abdominal pain.
• Constipation.
• Vomiting.
• Pain.
• Personality change.
• Numbness or tingling.
• Muscle pain.
• Muscle weakness.

Treatment of Porphyrias

Common Treatment of Porphyrias

• Hematin and haem arginate are the drugs of preference in acute porphyria.
• Hematin injections
• Monitoring of blood gasses.
• Increase of carbohydrate intake.
• Pain medication.
• Sedation for restlessness and agitation.
• Propranolol for hypertension.
• Healthy diet .
• Barbiturates especially must be avoided.
• Avoid sun exposure.