Melas Syndrome: Treatment, Cost and Side Effects

Melas is basically the short form for the combined diseases of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. This is a genetic disorder that results in stroke and dementia. Since it is a combination of diseases, no specific treatment is available. Anticonvulsant drugs are used to control the seizures associated with the disease. In cases of sensorineural deafness, cochlear implants are used as a treatment. In this condition, valproic acid should not be used as an anti-convulsant drug because it may lead to more severe complexities. Coenzyme q10 and L-carnitine has been used in some patients and have reaped a positive result. In patients with mitochondrial myopathies, moderate treadmill training is recommended at times because this improves the aerobic capacity and drops the resting lactate levels. Intravenous L-arginine helps to improve the conditions in patients who have acute stroke-like episodes. Oral arginine has been used in cases of recurrence of stroke-like episodes during the asymptomatic period. Melas syndrome is a genetic disorder which means it is hereditary in nature and can pass on from an individual to their offspring. Therefore, proper genetic counseling is recommending for the affected persons and their families for the sake of someone else being a carrier of the disease.

Since different parts of the body are damaged at different times, the treatment is carried out according to the areas of the body that are affected. Multiple enzymes, amino acids, vitamins, and antioxidants have been used to treat Melas syndrome. In certain cases, supplements are given to combat the symptoms. Coenzyme q10 is given as a supplement sometimes. Nicotinamide is used sometimes as a supplement because complex I accept electrons from NADH and transfers them eventually to coenzyme q10. Riboflavin is used at times too and has reported improving the conditions of a patient with complex I deficiency and the 3250T-C mutation. Sometimes due to nitric oxide depletion, there is impairment of vasodilation in intracerebral arteries, which in turn, damages the brain. Thus to reduce this damage, L-arginine is administered during the acute and interictal periods. The research is on to discover new ways of administration of drugs to reduce the symptoms of this disease. Since this is a hereditary genetic disorder it is very difficult to treat the disease with medications. The drugs and supplements can only look to reduce the symptoms associated with the disease. Gene therapy could be a possible treatment which is still under research.

The exact incidence of Melas syndrome is not yet known to us. This disease is very rare occurring in one out of four thousand. It is very important to recognize the disease in an individual to treat it. The nervous systems and the muscles are the worst affected. In children, the disease can sometimes occur after a period of normal development and then they have to be treated. In adults, the onset of the disease can be documented from the recurrence of stroke-like episodes that start before the patient reaches the age of forty. This condition can sometimes be diagnosed as epilepsy by the physician who is not aware of the condition. Thus, all are eligible for the treatment if they are diagnosed in time.

In adults, Melas syndrome is often confused with epilepsy due to the occurrence of stroke-like episodes. Thus, before treatment is started, proper tests must be conducted to be absolutely sure. Melas Syndrome involves different parts of the body. Thus patients who have this disease in the severe form can’t respond to the supplement therapy and thus are not eligible for it. For them, the affected organs need to be treated individually in order to keep them working. The research is still on for a combined therapy that can target all the symptoms together and reduce the side effects. Thus, this is a genetic disorder that is still under research.

Since many organs or parts of the body are affected different medicines need to be used for different organs. Thus, mainly it should be checked that one medicine must not have a side effect on another organ or part of the body. Medicines can sometimes further affect the mitochondria. The mitochondrial respiratory chain consists of five enzyme complexes and uses cytochrome c and coenzyme q10 as electron carriers. Due to direct inhibition of one or more of the enzymes or uncoupling of oxidative phosphorylation may result from pharmacotherapy induced MRC dysfunction. High-quality evidence of side effects are not known and most of the information available is from research. There are certain medicines that are to be avoided in patients with mitochondrial disease.

There is no specific treatment available for Melas syndrome yet. Melas Syndrome is a genetic disorder, therefore, it cannot be cured completely by therapy and treatment. The symptoms of the disease can be somewhat arrested or reduced, but the medications cannot be stopped. But Yes, if a particular organ or part of the body starts to function normally then in rare cases the medicines can be discontinued. Thus, gene therapy is the only way out but it is still under research. Therefore, there are no as such post-treatment guidelines for the disease and care should be taken to keep the organs and different parts of the body functional.

Melas Syndrome affects different organs and parts of the body. Sometimes this cumulative dysfunction of the organs may be fatal and may result in death. If it is diagnosed early and within a treatable stage, then different therapies can be applied for the proper functioning of the different affected parts. In most cases, these medications are continued forever to keep the symptoms in check otherwise they may recur. But in certain rare cases, if the affected organ starts to function normally when the medications are discontinued. Thus, there is no such recovery period within which the patient will recover. It is variable for every individual.

Since this disease is a combination of different diseases, a group of physicians dealing in the different branches of medicine must be consulted to treat the disease. The disease is treated at certainly specialized clinics all over India where a doctor’s appointment can be made just by paying the consultation fees of the doctors which can be in the range from 1000 to 3000 INR. The consultation fees of the doctors depend on the individual doctor and the clinic and vary all over India. The medicines suggested by the doctor also have a variable cost. Thus the cost depends on the severity of the syndrome.

There can be no definite answer to this question. It will depend on the subject and the severity of the syndrome in the subject. Sometimes, the medications are able to make an organ function normally. But once the medications are stopped the symptoms might recur. In others, it may continue to function normally after the medicines are stopped. Thus, it all depends on how the subject’s body responds to the medications.

The efficacy of the already used medications like carnitine, coenzyme q10, riboflavin, nicotinamide is still under research so that it can be improved. Arginine and citrulline are being considered as alternatives to reduce brain damage from stroke-like episodes. The clinical trial of idebenone which may have an effect on brain lactate is being done in leading laboratories of the world. The safety and tolerability of idebenone are also being studied. Clinical trials are also being done to study the treatment and prognosis of diabetes in Melas affected subjects. Thus, all these treatments are under research.