Understanding Graves' Disease

What is Graves' Disease

Irritated, enlarged eyes that look like they're about to pop out are the most noticeable symptom of Graves' disease, an immune system disorder that leads to the thyroid gland producing too much thyroid hormones.  In this disease the body will produce antibodies which over-stimulate the thyroid gland, and usually also attack and inflame the tissue that lies behind the eyes and skin on the lower legs.

Diagnosis

• In order to diagnose a patient the doctor will need a blood sample in order to test the levels of TSH (Thyroid stimulating hormone), T3 (triiodothyronine) and T4 (thyroxine).  Sometimes the test will also measure TSI (thyroid-stimulating immunoglobulin.
• Another method to diagnose for Graves disease is Radioactive Iodine uptake test. Once Iodine is placed in the blood stream the thyroid gland will absorb it, and by measuring the rate of absorption the doctor will see if the thyroid is being over-stimulated.
• A CT scan and MRI is used to check eye problems that are associated with Graves (inflammation of the tissue behind the eyes, redness, swelling which appears to make them pop out).
  

Mechanism of action

• T3 and T4 are produced by the thyroid gland (located right under your vocal chords) and they are in charge of controlling the metabolism in the body, particularly the rate at which molecules are created or broken down. TSH on the other hand is released by the pituitary gland (located under your hypothalamus) and it is in charge of controlling how much T3 and T4 the thyroid makes. If the level of any of these three is higher than normal it is indicative of a thyroid problem, and particular for Graves disease is present if the T4 level is higher than average.
• High level of T4 increases the rate of metabolism of the body, which affects weight,  physical appearance, increased sweating, difficulty concentrating, anxiety, heart palpitations or arrhythmias, fatigue, high sensitivity to heat,  menstrual irregularities etc. But as mentioned previously, eyes that seem to be bulging out is one of the outcomes that can be noticed quickly, along with an enlargement of the thyroid gland noticeable in the neck region.

Treatment

• To treat Graves disease the doctor will prescribe anti-thyroid medications which decrease the production of T3 and T4.
• Radioiodine therapy can also be helpful for Graves. A patient is prescribed an iodine solution to be taken orally, which allows iodine to collect in the thyroid and over time this will kill the overactive cells. After this therapy the patients will likely need hormone replacement therapy.
• Beta-blockers (short for Beta-adrenergic blocking agents) are also prescribed in order to reduce the heart rate, anxiety and sweating. This group of drugs blocks the effect of epinephrine (adrenaline) which makes the heart beat more slowly. Examples of Beta-blockers that are commonly prescribed by doctors are: Atenolol, Bisoprolol, Metoproplol, Propanolol etc.
• Lastly, an alternative to medications is surgery to remove the thyroid, which is followed by hormone replacement therapy.
• There are also ways to treat the symptoms that are not thyroid related . For eye irritation the doctor will prescribe Prednisone, a steroid drug. Some patients have to use tape to keep their eye lids closed at night to prevent them from drying. Leg skin inflammation is handled with leg wrappings with ointments.
  

Until next time,

A.M.D

Bart syndrome

I just came across a disease called Bart syndrome which may very well be the strangest disorder I have heard of to this day. It is a genetic condition that makes the fetus not grow skin in certain areas of the body, causes blistering and scarring where skin is actually present and nail abnormalities. Usually the baby's feet below the ankle or hands will have a thin membrane over the flesh but will be missing skin layers. Blisters tend to appear around and inside the mouth and on the belly, shoulders or even head. It is an autosomal dominant disorder, which means that both parents have to be carriers of the mutant version of the gene in order to transmit it to the baby. The difference is in the gene that makes Collagen Type VII on exon 73 of chromosome 3, where a Guanine nucleotide becomes an Adenine nucleotide. This changes the normal Glycine amino acid into an Arginine which alters the structure of the anchoring fibrils that hold tissue together. The feet and hands are the parts of the body where this anchoring is most important so they tend to display the condition.

So when a baby is born with the Bart syndrome he or she will need to wear a sterile dressing around the problematic area with a saline and antibiotic ointment that needs to be changed daily to prevent infections, very gently otherwise bleeding will occur. This is currently the only way to manage the disease. In some cases even with the dressing the digits tend to fuse together and the hands and feet lose their structure.  Luckily Bart syndrome occurs in only 1 in a million babies, but still, a very strange condition.

Until next time,
A.M.D