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Porphyria – symptoms, diagnosis and treatment

Porphyria – symptoms, diagnosis and treatment

porphyria

What is Porphyria?

Porphyria is a group of disorders or diseases caused by the defects in certain enzymes which are essential in formation of “heme” with iron needed for hemoglobin and myoglobin. Heme is important for production of hemoglobin. Heme is produced in the liver and bone marrow. Heme biosynthetic pathway is the process by which heme is produced. When defective enzymes enter the pathway, the process is disrupted resulting in formation of the chemical compound called porphyrin which in turn build up in the body and create various disorders and consequent illness. In all types of porphyria, problem in the production of heme is the major cause.

Types

Porphyria is classified as acute and cutaneous.

  • The acute form cause neurological disorders
  • Cutaneous form cause skin diseases

Some types of porphyria can cause both neurological and skin disorders. The incidence of the   disease is both genetic and acquired.

Causes

Inheritance is the primary form of this disease. Such inheritance may be from one of the parents or both the parents. When it is from the defective gene of one of the parents, it is called autosomal dominant pattern and when it is from both the parents, it is called autosomal recessive pattern. In either case symptoms may or may not appear.

The acquired form is mainly on account of enzyme deficiency triggered by excess iron in the body, estrogen medication, use of excessive alcohol, smoking or liver disease. While in the case of the genetic form only inheritance is the risk factor, in the case of the acquired form there are many risk factors. Some of them are, emotional and physical stress, smoking and consumption of alcoholic drinks, too much exposure to the sun light, irregular food habits including dieting and fasting, consumption of drugs and medications of different types.

Symptoms

Different types of diseases have been identified in both the forms of the disease and each type is attributed to a particular defective enzyme. Main cause of porphyria is defect in the enzymes but the symptoms are many. However in some types of disorders no symptom may surface.

Symptoms for each type of porphyria are different.

In the case of acute porphyria, the nervous system is affected and the  symptoms are many including  back pain, chest pain, acute abdominal pain, muscle pain, leg pain, constipation, nausea, vomiting, nxiety, hallucinations, instability of the mind, urinary problems including urine turning brown in color, breathing disorders, seizures, palpitations and high blood pressure. Liver cancer, kidney damage and depression are also indicative of the disease.

In the case of acquired porphyria, the symptoms are the outcome of exposure of the skin to the sun heat. Such symptoms are, itching, redness of the skin, burning sensation, swellings, blisters on the skin of the hands, arms and face, change of the skin color, growth of abnormal hair on the affected part of the skin and change of urine color to brown or red. Face, neck, ears, hand and forearms are the mostly affected places due to sun exposure and the consequent cutaneous diseases.

In women, acute porphyria is not known to affect before attaining puberty and after menopause.

Diagnosis

Many of the symptoms of porphyria may be common to many other diseases. Hence it is very important to conduct clinical tests to find out the underlying condition. Clinical examination alone can provide clue about the type of the disease, genetic or acquired. On account of similarity of the symptoms for various other diseases also diagnosis of porphyria is time consuming in view of the complexity of the test results.

The diagnosis done through biochemical analysis of the blood, urine and stools samples. Further tests are also conducted to confirm the disease. Such tests are neurological tests, ultrasound test of the liver or tests on any other organ that may be affected.

Treatment

Treatment can be given to all types of porphyria based on the type and symptom.

In the case of the genetic form

  • Medication can be administered to limit the production or porphyrin which is responsible for the disease.
  • Consumption of sugar or intravenous administration of glucose are also attempted to keep the intake of carbohydrate at the required level.
  • Serious symptoms need to be addressed by hospitalization.

 

In the case of cutaneous form

  • Blood is drawn out of the body to reduce the excess iron
  • Drugs given for malaria are used to reduce porphyrin in the body
  • Since exposure of sun light need to be avoided, vitamin D supplement must be taken to avoid vitamin D deficiency.

 

As a preventive measure, triggers that cause the disease, like too much exposure to sun light, smoking, consuming alcohol, treating other illness or disorders quickly etc are to be avoided.


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