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Overview

Porphyria: Treatment, Procedure, Cost and Side Effects

What is the treatment? How is the treatment done? Who is eligible for the treatment? (When is the treatment done?) Who is not eligible for the treatment? Are there any side effects? What are the post-treatment guidelines? How long does it take to recover? What is the price of the treatment in India? Are the results of the treatment permanent? What are the alternatives to the treatment?

What is the treatment?

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How is the treatment done?

Porphyria is a group of genetic or more specifically blood disorders that are caused due to deficiency of enzymes that are responsible for making heme protein. Heme protein is responsible for the red colour of the red blood cells and also for carrying oxygen in the blood and is found throughout the circulatory system and the bone marrow. So, people affected with porphyria have disorders of the skin or the nervous system or both. Porphyria of the skin causes disorders like itching, swelling and blisters all over the body whenever exposed to the sun and is known as cutaneous porphyria. Porphyria of the nervous system is known as acute porphyria and is symptomatic of muscle numbness, paralysis, tingling, camping of the muscles, ache in the chest, limbs, back and the abdomen, vomiting and constipation, mental disorders and other personality changes. Long term porphyria complications are kidney damage, depression, chronic pain and liver cancer. The enzyme deficiency causes porphyria cutanea tarda (PCT), an acquired disease from one or both the parents. People affected with PCT normally never develop any symptom and the disease gets triggered due to lifestyle and conditions that involve too much of smoking, drinking alcohol, HIV, Hepatitis C and estrogen use in females. Acute porphyria which normally occur after puberty are triggered due to the action of a few drugs like sulfa antibiotics, seizure medicines, barbiturates and birth control pills. There is no treatment of porphyria. Only the symptoms can be managed with some medicines. People having severe attacks may require to be hospitalized

Who is eligible for the treatment? (When is the treatment done?)

Treatment of porphyria depends upon the severity of the symptoms which get triggered due to certain lifestyle choices and conditions. So, porphyria treatment mainly involves managing and reducing the symptoms as complete eradication of the disease is not possible. So, to avoid triggers that cause the symptoms would include avoiding alcohol and recreational drugs, smoking, fasting and dieting, taking steps to reduce stress, treating infections, avoiding exposure to sun and consulting the doctor for safe drugs. If a patient is diagnosed with acute porphyria he/she can be treated with hemin injections that limit the production of porphyrins in the body, hospitalised in case of severe dehydration, pain, vomiting and breathing problems and can be given intravenous glucose to maintain adequate carbohydrate intake. Patient diagnosed with cutaneous porphyria can be treated with vitamin D dietary supplement, hydroxychloroquine or chloroquine drugs that are normally used to treat malaria to help the body lose porphyrins as fast as possible or can also get phlebotomy or blood drawn out to reduce the level of iron in the body which eventually decreases porphyrins.

Who is not eligible for the treatment?

When the general physician suspects the symptoms of acute porphyria or cutaneous porphyria, diagnostic tests of the same may be recommended. The test would involve testing of the blood sample or urine or stool sample. Although the symptoms shown by porphyria may not be diagnosed at the first attempt because the symptoms may be for other infections also. So, the general physician might observe certain other conditions like prevalence of the symptoms for about two weeks or more. So, when the symptoms have been observed for a particular period and the diagnostic tests reveal positive results for porphyria, such affected patients would be eligible for treatment.

Are there any side effects?

If the symptoms do not prevail for too long, or they do not appear after specific medication or if the blood, urine or stool tests do not show the presence of porphyrins, then the person is not eligible for the treatment.

What are the post-treatment guidelines?

Different porphyrias require different medications to be treated. Acute porphyria requiring hemin infusion may cause certain side effects like easy bleeding and bruising, weight gain, shortness of breath, swelling, urinating less and irritation or swelling or pain at the injection site. Although the side effects are not life threatening and may not cause very serious problems.

How long does it take to recover?

The patients are required to avoid smoking, drinking alcohol, fasting and dieting, taking other recreational drugs, sun exposure, and emotional stress and also discuss with the general physician about any other medication going on.

What is the price of the treatment in India?

Porphyria does not cure completely. Only the symptoms can be managed and some lifestyle changes need to be done to avoid symptoms.

Are the results of the treatment permanent?

The price of the treatment may range from Rs. 20,000 to Rs. 40,000 including consultation, tests, medication etc.

What are the alternatives to the treatment?

Results of the treatment cannot be said permanent because the disease cannot be cured completely. The treatment involves only management of the symptoms. Hence, the symptoms can reappear if lifestyle is not managed appropriately or sometimes even without that.

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