What is Progeria Disease: Causes, Symptoms and its Treatment

What is Progeria Disease: Causes, Symptoms and its Treatment

Progeria Disease

Progeria is a rare and fatal genetic condition that makes a person older than they are.

A word Progeria derived from the Greek word “pro” meaning

Before or prematurely” and “gears” meaning old age.

So we can say that Progeria Disease is a rare genetic condition in which a person grows too faster or become older prematurely.

The exact cause of this disorder is an abnormal protein known as progerin which is used by cells.

What is Progeria Disease: Causes, Symptoms and its Treatment

Progeria is also known as a Hutchinson Gilford Progeria syndrome (HGPS) which named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and 1897 by Dr. Hastings Gilford another type of Progeria is Werner syndrome known as a adult Progeria, which occurs later in life but HGPS is a classic type of Progeria Disease which affects by birth

It is an extremely rare condition but affects both sexes and all races equally

It affects 1 in every 4 to 5 million births worldwide

TYPES OF PROGERIA

  • Hutchinson Gilford Progeria syndrome
  • Werner syndrome (adult Progeria)

So let’s go first with HGPS

Hutchinson Gilford Progeria Syndrome

A Most common and classic type of Progeria

Progeria with child look normal at the birth time and early infancy this kind of children appears old at their early age, kids start growing more faster than a normal child, after 1 to 2 year or disease began

CAUSES OF HGPS

A main and only cause is LMNA gene this gene produces “lamin –A” protein, the abnormal lamin A protein that causes Progeria is called progerin. A progerin makes the nucleus unstable that cellular instability leads to the process of premature aging or Progeria

SIGNS/SYMPTOMS

Babies with Progeria Disease are normal at their birth time after a one year they starting showing symptoms. They do not grow or gain weight normally they develop physical traits

  • A high pitch voice
  • Inflammatory or visible veins
  • Abnormal tooth growth
  • Bigger head or larger for face
  • Large eyes
  • Small jaw
  • A thin nose and lips
  • Hair loss including eyelashes and eyebrows
  • Cardiovascular (related to heart ) and blood vessels disease
  • Loss of muscle tone
  • Loss of muscle mass and fat
  • Stiffness of joints
  • Hip dislocation
  • Insulin resistance
  • Hearing impairment
  • Back and body aches

 

RISK FACTOR

Progeria is an extremely rare genetic disorder. There are no known factors that may risk to get or give a birth to a child with Progeria, but parents who had a child suffering from Progeria have likely  2 to 4 percent chances to having a second child with Progeria. None other factors e.g. environment, lifestyle etc are not affect or does not have the risk for Progeria.

HOW CAN LONG CHILD ALIVE?

A child who is suffering from Progeria (HGPS) has older too faster so he/she cannot live more than 13 to 14year. Life expectancy of these kinds of children are maximum 14 years some few children live up to 20 years but it’s rare

DIAGNOSIS EVALUATION

A child may suspect Progeria Disease based on signs and symptoms but a test that detects Progeria is;

  • LMNA mutation test: a genetic test that confirms that diagnosis
  • Physical examination may include;
  • Measure height & weight
  • Hearing and vision tests
  • Measuring vital signs

 

TREATMENT

Usually no curative treatment for Progeria but a symptomatic treatment that can control symptoms

According to the journal of the American medical association (JAMA) reports (2018) that lonafarnib, a farnesyltransferase inhibitor (FTI), helps to extend life or more chances to survival in children with Progeria.

This drug lonafarnib is a farnesyltransferase inhibitor (FTI) which is basically a drug that treats cancer.

The drug lonafarnib alone with no treatment was associated with a lower mortality rate of about 3.7 %vs. 33.3%

Other Treatments Are:

Therapies:

Occupational therapy & Physical therapy helps children active and also helps with joint stiffness problems

Devices:

Hearing aids: children with Progeria are prematurely older and they have so many old age problems hearing impairment is one of them

Spectacles: they also get vision problems early

Nutritional therapy: high calories foods help to maintain adequate nutrition

WERNER SYNDROME

Werner syndrome (WS) also known as “adult Progeria” the Werner syndrome is named after the German scientist “Otto Werner” it’s an extremely rare autosomal recessive pattern of inheritance. People with Werner syndrome do not look like their “chronological age “

A person with this disorder grow normally until they reach puberty it begins when they are in their twenties.

How long life expectancy with adult Progeria?

Average life expectancy for the patient is 40 to 45 years

CAUSES:

Mutation in the WRN gene that causes this syndrome

Transfer through parents who have an abnormal gene mutation

SIGN /SYMPTOMS

  • Short structure
  • Skin changes including; wrinkling, ulcer, dryness, bruising, discoloration
  • Early graying or thinning of the hair
  • Tissue damage
  • Thin limbs

 

Other health issues are:

  • Atherosclerosis
  • Osteoporosis
  • Type 2 diabetes
  • Heart disorders
  • Cataract in both eyes

 

FREQUENCY

This disorder mainly affects in Japan

1 in 2, 00,000 people

HOW TO DIAGNOSE?

1. Genetic test: that help to diagnosed mutation of the gene

2. Physical examination:

Some sign and symptoms predict that a person is having Werner syndrome that signs are;

  • Cardinal signs (bilateral ocular cataracts)
  • Premature graying hair
  • And other signs that the older age

 

TREATMENT

No curative treatment is there some symptomatic treatment like control diabetes, a drug that lowers cholesterol,

Prevention of Further Complication:

  • Daily exercise and yoga
  • Avoid fatty food
  • Avoid smoking
What is Auto Brewery Syndrome and How to deal with it

What is Auto Brewery Syndrome and How to deal with it

Usually, we are advised to people to do not drink alcohol, its harmful for your body and on the other side alcohol is useful for so many medications and it also provides numerous health benefits, when it takes a little amount.

What is Auto Brewery Syndrome and How to deal with it

WHAT WILL HAPPEN WHEN OUR OWN BODY PRODUCES ALCOHOL?

Yes, it’s true, this is the syndrome in which our own body produces alcohol some people say it’s so good “drunk without a drink” and we don’t want to buy and without paying we can enjoy those kinds of people don’t know how worst it for us lets know what is it.

AUTO BREWERY SYNDROME first know meaning of disease AUTO means “oneself” brewery means “a place where beer is made syndrome means “a group of signs and symptoms that occur together and characterized a particular abnormality or disease so auto brewery syndrome is a type of disorder in which person body makes alcohol and its create group of signs and symptoms that make it a syndrome.

Auto brewery syndrome also known as a GUT FERMENTATION.

Gut means stomach and fermentation mean “a chemical breakdown of a substance by bacteria, yeasts or other.

When a person eats sugar or maybe a large amount of sugar normally our body converts into glucose and its use as a energy but in gut fermentation or auto brewery syndrome our body produced alcohol by converting sugar into ethanol or alcohol it’s a chemical break down by yeast that plays a vital role in this abnormality.

DEFINITION

Auto brewery syndrome is an abnormality in which our body produced intoxicating quantities of alcohol (ethanol) through endogenous (having an internal cause or origin) fermentation within the digestive tract.

CAUSATIVE AGENT

Saccharomyces cerevisiae a type of yeast which is responsible for gut endogenous fermentation this yeast break down of sugar and produced alcohol which is enough to intoxicant a healthy person.

SYMPTOMS

  • Dizziness
  • A headache or hangover
  • Disorientation
  • Irritable bowel syndrome
  • Anxiety
  • Depression
  • Dry mouth
  • Excessive belching
  • A person who has suffered from this disorder have all the time headache, slurred or incoherent speech,
  • Nausea, vomiting
  • Loss of consciousness

 

RISK

The person feels like totally drunk that have the risk for an accident.

DIAGNOSIS

An auto brewery syndrome is usually difficult to understand or very hard to prove that you don’t have drink alcohol all symptoms that proof that you had drunk alcohol.

How to diagnosis?

You have to tell all the things and symptoms to your doctor

Doctor will analyze by a breath analyzer if you are suffering from gut fermentation your blood alcohol concentration (BAC) is definitely high at that time your doctor will hospitalize you under 24hours observation and gives you sugar, carbohydrate and fatty food that will trigger abnormal gut fermentation then takes your blood samples to analyzed if still your blood alcohol concentration is there is a problem its auto brewery syndrome there is no particular test to analyze this disorder it only done by breath analyzer or blood alcohol concentration, under observation.

DIET

A person who suffers from auto brewery syndrome has to cut off all the types of sugar, carbohydrate, and fatty food.

You should maintain a strict diet plan to live a healthy life and avoid all the seeds, nuts, carbohydrate-containing vegetables you can eat protein food like meat, egg and a small amount of seafood.

If you have a small amount of sugar or carbohydrate food even a single apple it will feel like a drunk.

TREATMENT

There is a only treatment of auto brewery syndrome is high protein diet and low sugar and carbohydrate that makes low fermentation.

MEDICATION

Antifungal is the only medication that fights with yeast in the gut but some are responding to this drugs and some do not.