Tag: Hereditary Diseases

Diagnosing Gilbert’s Disease

There are times when people go through a certain stage in their lives when they need to understand and adjust to certain changes in the way that they live. Some people are burdened with adjusting to getting married, losing a loved one or acquiring a disease or a medical condition. Of all the three, getting diagnosed with a medical condition can be the hardest to adjust to especially if you found out that you have been living with it for all your life. Hereditary diseases like Gilberts disease are one of those that we can acquire and not know about for a long time.

One of the reasons why we can live without knowing the presence of Gilberts disease is that the condition itself has no symptom or noticeable effect. Some people can even live through the rest of their lives without even knowing.

Just because it has no symptom it doesnt mean that it should not be consulted. People sometimes have the wrong notion of not going to a specialist if they suspect that they have Gilberts disease. So why is it important to have your condition diagnosed? Well there are several reasons but lets just look at one and that is for proper identification of the solution for the the problem, once we have the right diagnosis we can move on to taking care of the person who is sick.

Exclusion of other conditions

While this syndrome Gilberts disease is considered to be harmless by itself, it is clinically important to be diagnosed and identified correctly because it may be confused with much more dangerous liver conditions. However, these will show other indicators of liver dysfunction:

– Hemolysis can be excluded by a full blood count, haptoglobin, lactate dehydrogenase levels and the absence of reticulocytosis (elevated reticulocytes in the blood would usually be observed in haemolytic anaemia);

– Hepatitis can be excluded by negative blood samples for antigens specific to the different hepatitis vira;

– Cholestasis can be excluded by the absence of lactate dehydrogenase, low levels of conjugated bilirubin and ultrasound scan of the bile ducts;

– More severe types of glucoronyl transferase disorders like Crigler-Najjar syndrome (types I and II). These are much more severe and cause brain damage in infancy (type I) and teenage years (type II);

Other diseases of the liver can be exluded by the liver-enzymes ALAT, ASAT and albumin being within normal ranges.

Findings specific to Gilberts syndrome

Patients with Gilberts disease show predominantly elevated unconjugated bilirubin. While conjugated is usually within normal ranges and form less than 20 percent of the total. The level of total bilirubin is often increased if the blood sample is taken after fasting for two days, and a fast can therefore be useful diagnostically. If the total bilirubin does in fact increase while fasting, the patient can then be given low doses of phenobarbital when fasting has ended, and following samples should show a decrease in total bilirubin toward normal levels.

Once the findings have been reported, the patient with Gilberts disease should be more careful and should follow what the physician says. It will also be helpful for him or her to conduct a research so he or she can take care of themselves at home or if they cannot go to the doctor regularly. It is also best to watch diet carefully, conduct regular exercise, and take necessary medications or undergo treatments when needed.

Understanding Gilbert’s Disease

Many of us are afraid of having any kinds of diseases. This is because of the very hectic and fast paced lifestyle that people have today. Because of the kind of lifestyle that most people have, one can easily be left behind because of a minor setback like the flu or a cold. There are a lot of viruses that can affect us in all of our surroundings. You could be sitting quietly in your garden when a mosquito suddenly bit you and because of that bite you got infected with malaria. This is just on of the hundreds of real life scenarios that have caused illness to people. But with a little carefulness and a lot of prevention, these situations can be easily avoided. But for other conditions that are hereditary like the Gilberts disease a person can only do so much.

Hereditary medical conditions can be described as a disaster waiting to happen or a bomb waiting to explode. This is because the nature of most hereditary conditions is benign and dormant. A person can go on half their life without them knowing that in a few years they could be suffering horribly. The healing process takes years and it takes a lot of patience and understanding between the families and friends.

The real key to understanding the condition is by understanding the syndrome itself and putting yourself to the pinnacle of caring for your loved one. People with Gilberts disease and other hereditary diseases rarely fully recover from their conditions and some relatives just give up on their family members. Thats the reason why people should be really up to the task of taking care of the afflicted person for almost the rest of their lives.

To better understand the effects and the Gilberts disease a person must know the kind of condition a person afflicted with the disease feels. Commonly Gilberts disease is a common disorder passed down through each generation of families that attacks the way bilirubin is processed by the liver and this offensive against the livers processing may also lead to called jaundice.

Other names that we can call it

In the field of medicine, Gildberts disease comes in many names. Some of which in include Icterus intermittens juvenilis, low-grade chronic hyperbilirubinemia, familial non-hemolytic-non-obstructive jaundice, constitutional liver dysfunctions, unconjugated benign bilirubinemia among others. Although the names of the condition vary, they are all believed to have the same effect and symptoms as Gilberts disease.

Unveiling its causes

Gilberts disease affects up to 10% of some Caucasian populations this means that for every one hundred people ten of them suffer from the disease. The causes of the condition are still a bit of a mystery, one thing that is for sure is that it is hereditary. Signs and symptoms include mild jaundice (this is the yellowing of skin and whites of eyes), and fatigue.

It is really a trying and hard syndrome to over come, some people takes years to notice that they have Gilberts disease, and when they do find out sometimes its too late to be treated. Even though Gilberts disease can change a persons way of life the understanding and the commitment of the family should also be there. For those who might be suffering from this condition, it is best to consult a licensed physician before jumping to any conclusions or before taking in any form of treatment and medication.

The Anatomy Of Gilbert’s Disease

People have long asked about how exactly does Gilberts disease affect us in our daily lives? Well these questions have also concerned doctors and medical experts for the longest time. This because of the peculiarity of the condition itself, Gilberts disease is hereditary in nature yet unlike other hereditary diseases it does not have any major effects on the body. To further understand the structure and the inner workings of the condition here are some of the facts revolving around it so you will be better informed.

Gilberts Syndrome

Gilbert syndrome is frequently an autonomic recessive disorder and is a familiar origin of unconjugated hyperbilirubinaemia. There has been some information of heterozygous cases, mostly in Asian populations. Gilberts disease was named after the French gastroenterologist Augustin Nicolas Gilbert in 1901. The presence of Gilberts disease in a global scale is three to eight percent depending on the area of the diagnostic criteria was used:

1. Genetics. The reason for the body contacting high bilirubin levels is because of the fluctuating levels of UGT or urodine diphosphate glucuronosyltransferase in the liver and the blood stream. UGT is an enzyme that aids the liver in breaking down bilirubin. Bilirubin is the waste product of the hemoglobin in the blood. Hemoglobin is used to carry oxygen in our bloodstream.

– Hepatic glucuronidation (essential for conjugating bilirubin) is concentrated to minimal levels to around 30 percent of standard; and – In addition to their reduced Bilirubin-UGT enzyme activity, most patients with Gilberts syndrome may have irregularities in the glucuronidation of aspirin or derivatives of coumarin and dopamine.

2. Presentation. It can stay overlooked for many years, but more often than not makes its manifestation in adolescence with:

– Irregular jaundice noticed after fasting, being short of of sleep, hearty exercise or during an intercurrent sickness. – Contacting certain medications may aid in the manifestation of jaundice e.g. chemotherapy. Unfavorable effects of anticancer agents have been observed in Gilberts patients owing to reduced drug or bilirubin glucuronidation.

There is hope

Despite other distinctive results related to Gilberts disease include jaundice, nausea, exhaustion, instability, bowel complaints, queasiness and vomiting, and difficulty concentrating. Investigations associated with the condition include: full blood count proves usual reticulocyte count – to differentiate from haemolysis; a climb in bilirubin on fasting or after IV nicotinic acid can corroborate the conclusion; additional liver function tests (as well as lactate dehydrogenase) and liver biopsy are regular, but the latter should hardly ever be required clinically; and absence of bilirubin and abnormally low amounts of urobilinogen in the urine.

The good news for people with Gilberts disease is that they really dont have much to worry about since the damage done by Gilberts disease is almost non threatening. No healing is required and life expectation is normal. Bear in mind also that not all the people who are affected by Gilberts disease show signs and symptoms at all. Although asymptomatic Gilberts disease all the way through ones life is very exceptional, there can positively be periods of time a patient has no external signs of the disease.

Absolutely no treatment is required for the condition. Patients with Gilberts disease can normally lead healthy lives. Their life expectancy is not really affected. Mild jaundice may recur from time to time for short periods, but usually causes no health problems.