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Alpers’ Disease: Diagnosis and Treatment

Medically reviewed by Sandeep Dhanyamraju
Medically reviewed by Sandeep Dhanyamraju

Alpers disease is a rare mitochondrial disease. As a rule, you can diagnose it with a genetic or blood test. It manifests as a progressive encephalopathy combined with cirrhosis of the liver.

The molecular basis of the disease is a gamma polymerase deficiency. It is the only eukaryotic DNA polymerase. It supports DNA replication in the mitochondria. One of the well-known facts of Alpers’ disease is that the level of replication of genetic material is critically low. While mitochondrial enzyme activity is impaired. ATP deficiency affects the most energy-dependent structures:

  • the central and peripheral nervous system;
  • liver;
  • gastrointestinal organs. 

 

Alpers’ disease manifests in infancy through sudden seizures. They can be general or local. There are no apparent signs of liver damage. As you get older, more and more symptoms can appear. Scientists have observed some changes in liver biochemical tests. The following symptoms are:

  • delayed psychomotor and physical development;
  • muscle hypotonia;
  • impaired coordination of movements. 

 

The syndrome was first described by Alphonse Maria Jacob. He is the teacher of the American neurosurgeon Bernard Jacob Alpers. Bernard published the findings of his mentor in 1931.

 

Alpers’ Syndrome Diagnosis

examinations to verify alpers disease

At the initial appointment, the neurologist, identifies atypical epileptic encephalopathy. This requires mandatory confirmation or exclusion of Alpers disease. A geneticist, hepatologist, and cardiologist take part in the examination of the patient. They take into account the polymorphism of clinical manifestations. Then doctors prescribe instrumental, and laboratory examination methods to verify the diagnosis:

 

EEG

In the beginning, the doctor determines:

  1. Bipolar epileptic activity;
  2. Homolateral epileptic activity. 

This activity exists in the form of spikes and polyspikes. Diffuse slow activity is characteristic of the period of Alpers’ disease onset. It occurs in occipital areas with accents in temporoparietal areas of the brain. Diagnosis allows the physician to assess the features of brain fluctuations. The physician can also detect the presence of abnormalities in this process.

 

MRI of the Brain

The images show areas of the moderately hyperintense signal. They are visible in the occipital areas of the cerebral cortex. The appearance of areas of increased intensity characterizes sustained seizures. Doctors detect them in the thalamus and medulla oblongata. Progressive atrophy during Alpers’ syndrome diagnosis is evident in:

  1. Basal ganglia;
  2. Brainstem;
  3. Cerebellum.

 

Abdominal Ultrasound Examination

In toxic hepatitis, there is:

  1. Moderate liver enlargement;
  2. Decreased echogenicity of its parenchyma. 

 

To clarify the nature of the pathology, the doctor performs an organ biopsy. Its results reveal:

  1. Fatty infiltration of hepatocytes;
  2. Proliferation of bile ducts;
  3. Liver fibrosis (in case of long-term existence of the disease). 

The method helps to assess the presence of dead liver cells and the viability of the internal organ.

 

Blood Tests

To make Alpers’ syndrome diagnosis  with a biochemical blood test, the doctor determines:

  1. Hypoglycemia;
  2. Elevated levels of transaminases;
  3. Hyperbilirubinemia;
  4. Hyperammonemia;
  5. Hypoalbuminemia. 

They show the development of liver failure. The doctor evaluates a correlogram when the prothrombin index is low. The study reveals high content of hepatic enzymes in the biological fluid.

 

Genetic Analysis

Doctors use it to detect a chromosomal mutation. It is one of the facts of Alpers’ disease. All children with suspected Alpers’ syndrome need a complete analysis of the gene. The doctor does this by direct automated sequencing.

The frequent mutation test is a screening test for the most common cases. Professionals perform this test in the mitochondrial polymerase gamma gene. Verification of the diagnosis is possible if the physician detects the mutation.

 

In general, we know  60 types of mutations. Several points make gene sequencing the most informative method of confirming a diagnosis: 

  1. A large number of mutations;
  2. A lack of specific biochemical markers for gamma polymerase.

Sometimes doctors supplement the test by measuring the number of copies of DNA.

 

Computed Tomography (CT) Scan

Diagnostic scans are among the most informative Alpers’ disease examination methods. It helps to identify foci of destruction. It also makes a prognosis about a person’s impending deterioration.

 

Treatment of Alpers Disease  

Alpers Disease is incurable, and treatment focuses on managing the symptoms. Treatment with anti-epileptic medication reduces the frequency and severity of seizures. Often, an individual’s healthcare team will adjust the dosage to find an effective balance between seizure control and side effects. 

treatment of alpers disease

Other treatments can include physical and occupational therapy or speech therapy. They help improve physical functioning, learning ability, communication, and coordination. Also, doctors can prescribe vitamins that contain coenzyme Q10. They help prevent liver damage. They can also lessen the severity of symptoms associated with liver failure.

Besides medical treatment, caregivers need to provide emotional support and a safe environment. It allows the individual with Alpers disease to live as comfortably as possible. This can include helping to maintain a consistent routine. It can also provide a calming environment with minimal stress.

 

Conservative Therapy

The difficulty in providing medical care to Alpers’ disease sufferers is the lack of effective etiopathogenetic medications. The treating physician selects symptomatic therapy individually for the patient. It corrects neurological disorders and stabilizes homeostasis parameters. Professionals carry out the treatment in neurological or intensive care units. As a rule, doctors recommend using the following medicines:

 

  • Antioxidants. They are from the group of vitamin-like substances. They have a positive anabolic effect and improve metabolic parameters. They are the only drugs that allow for stopping valproate-induced liver failure.

 

  • Anticonvulsants. Most physicians recommend modern anticonvulsants for the management of epileptic seizures. Doctors recommend using them from the groups of sulfate-substituted monosaccharides and lamotrigine. Since they do not cause toxic hepatitis during Alpers’ disease treatment. If they are ineffective, patients use older drugs (barbiturates, benzodiazepines).

 

  • Infusion solutions. For correction of water-electrolyte, exchange doctors prescribe crystalloid solutions. They can also administer infusions of glucose preparations and amino acid mixtures. It is necessary to maintain an adequate level of energy metabolism.

 

Palliative Care

In some cases, a technique known as palliative care can help manage symptoms. It can also reduce pain and suffering. This Alpers’ disease treatment includes:

  • intravenous hydration;
  • administration of nutrient mixtures;
  • relief of seizures;
  • elimination of hypoxia by hyperbaric oxygenation; 
  • oxygen support;
  • artificial ventilation. 

Palliative care includes social and psychological care for the patient’s family members.

 

Alpers’ Disease Prognosis

The prognosis for recovery from Alpers syndrome is unfavorable. The syndrome is accompanied by joint stiffness and chest deformity in newborn children. Doctors also note the unnaturally small body weight of the child. Signs of the disease tend to progress constantly. But, with timely treatment, the patient can relieve the symptoms to maintain a stable condition. 

 

Alpers Disease Life Expectancy

According to the literature, children, die within four years after the onset of the disease. The use of valproic acid to relieve epileptic seizures catastrophically increases the progression of the disease. It can cause the rapid development of fatal toxic hepatitis. 

In the case of atypical epileptic encephalopathy in a child, it is necessary to exclude the Alpers-Huttenlocher syndrome. You should also avoid prescribing valproic acid until the diagnosis is clarified. As a rule, the prognosis of  Alpers’ disease life expectancy is quite wrong. Doctors can make the diagnosis with mandatory genetic testing for the POLG gene.

 

A Word from Lone Star Neurology Professionals 

Statistically, most patients in their young years have a bad prognosis from this rare genetic disorder.  However, timely diagnosis of Alpers’ syndrome  with prescription of supportive therapy and exclusion of valproic acid drugs from treating epileptic seizures can reliably increase the patient’s life expectancy. You can always consult our Lone Star Neurology professionals for more information.

 

FAQs 

  • Is Alpers’ syndrome genetic?

It is a hereditary disease with an autosomal recessive transmission mechanism. It is characterized by blindness, localized or generalized seizures, myoclonic manifestations, and dementia. 

  • What causes Alpers-Huttenlocher syndrome?

The mutations responsible for the brain’s mitochondria cannot work correctly. Also, people cannot perform their basic functions. The cells gradually lose the ability to expend the energy the human body receives in the process of assimilation of nutrients.

  • What is Alpers’ syndrome?

It is a hereditary disease. It refers to a group of diseases associated with impaired mitochondrial function. It leads to impaired energy functions in the body. Delayed psychomotor development and epileptic seizures are also common. A widespread occurrence is liver damage due to medication.

  • When is the greatest risk of getting Alpers’ syndrome?

The greatest risk of developing the disease is when both parents are recessive carriers of the genetic mutation. Having a defective chromosome in one parent minimizes the likelihood of Alpers syndrome.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been prepared.read more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well together.read more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your business.read more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any cookies.read more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going there.read more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my treatment.read more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to finish.read more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 stars.read more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his staff.read more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best treatment.read more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my doctor.read more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding solutions.read more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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