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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?

NA

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.

Popular Questions & Answers

My mom (51 years) detected with skin tb. She has completed her intensive phase without any issue. But as soon as she started akt 3 (rifampicin, isoniazid and ethambutol) she started vomiting. This is her 4 month running. She vomits everyday. Can she stop the medicine?

M.D - Respiratory medicine / M.D Pulmonology
Pulmonologist, Mumbai
Hello, akt once started needs to be continued for 6 to 9 months. You could do a liver function test blood test just so as to see if akt has caused any hepatic disfunction which is a known side effect of akt and make sure she takes the tablets in 1...

What if one consume these medicines without having tb disease? Isoniazid (inh) rifampin (rif) ethambutol (emb) pyrazinamide (pza)

MD - Pulmonary Medicine, EDRAM
Pulmonologist, Delhi
Antibiotics are associated with lots of side effects like nause vomiting dyspepsia, thembocytopenia, rash and hepatic failure you will get resistance to these drugs meaning in future, that they might not work against the pathogen they are made for.
1 person found this helpful

My questions are described as below. 1. If one having chronic psychological stress "while" receiving primary series of anti rabies vaccination which is 5 arv doses on post exposure prophylaxis, will high level of cortisol hormone or this chronic psychological stress during those times prevent our immune system to mount a proper response to the vaccine? 2. I believe reduction of antibodies level overtime is a normal process. Chronic psychological stress will be elevated cortisol hormone, does this high level of cortisol or chronic psychological stress causes formerly protected level 0.5iu of rabies antibodies drop to unproductive level? (hope to understand more about antibodies during this event as I ever administered 5 doses of arv 3 years ago) 2. If one having protective rabies antibodies level 0.50iu or more, our antibodies kill the virus instantly once it's in site before it enters the nerve? How long does it take for our antibodies to kill the virus? Assume the virus already entered the nerve and spinal cord but it hasn't reached the brain will our antibodies still be able to kill it? 3. Will chronic psychological stress or high cortisol level affect or alter hepatitis c antibodies and hiv antibodies "seroconversion" process? (means production of antibodies affected therefore unable to properly seroconvert of antibodies due to severe level of stress or chronic psychological stress) 4. For hiv infection I have seen few discussions from Dr. h. Hunter handsfield (hiv expert) through medhelp forum with his patients that antibodies will clear p24 out of the blood until p24 no longer detectable and excess antibodies will start detectable through serology blood test afterward as part of seroconversion. A. For hiv if one having psychological stress or chronic psychological stress or high cortisol level will production level of antibodies that produce by our immune system stop or delay while in the middle of clearing p24 due to stress? I seen some of this p24 discussion from h. Hunter handsfield m.d (hiv expert) with his patient which I screenshot their conversation in the attachment above (kindly refer to the attachment in the above for more detail) he mentioned "in other words, the p24 cannot become negative until at least several days (typically a couple of weeks) after antibody appears" by h. Hunter handsfield m.d. B. I'm concern about will antibodies stop or delay production during that stressful event due to stress which causes improper seroconversion? (probably similar questions to no. 3 but a little more detail:) 5. If one having chronic psychological stress and high cortisol level, will one seropositive infections such as hiv or hcv (hepatitis c) "seroreversion" to seronegative? (i do understand for hiv positive patient seroreversion for hcv is common, although i'm not hiv positive and read some cases mentioned antibodies for hcv persist for life, some said persist for many years or up to decades. 6. If one having psychological stress such as anxiety which is either chronic or not chronic does it affects seroconversion process of antibodies for treponemal test on infection like syphilis (such as tpha, fta-abs) or non treponemal test on syphilis? (such as vdrl, rpr). 7. If one having severe psychological stress anxiety or chronic psychological stress does it causes syphilis treponemal test or non treponemal test antibodies seroreversion? (despite I seen some expert discussed overtime seroreversion for non treponemal test which test turning to negative overtime is normal and is the only issue for non treponemal that might be due to the nature of the test itself which does not happen to treponemal test).

PhD - Psychology
Psychologist, Patna
If you have psychological stress you need psychological counseling services through the online or offline process for the positive attitude that will be better for recovery of your problem thank you.

I am 40 years male with ln tb. Started on akt inh 400 rif 750 ethambutol 1400 pza 2 g.but then I developed hepatitis which got corrected. Now again I started akt after normalization of lft. Now I am taking inh400 rifa 600 ethambutol 1400 pza 1500 mg. Is this dose ok?

MD - Pulmonology, MBBS
Pulmonologist, Hyderabad
Your dosage depends on age and weight. If you had started akt according to appropriate dosage according to your weight and age, and now your hepatitis resolved completely, you can restart your earlier dosage.

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