Graves’ Disease and its Causes

The name game associated with Graves’ disease should be attributed to Irish Doctor Robert James Graves who, in 1835, explained an occurrence of exophthalmia to be related to goitre. Karl Adolph von Basedow independently explained its occurrence again in 1840 and it is by the name of this German that the disease is more commonly known within the European region. Graves’ disease has also been termed exophthalmia goitre and some of its less common names are Parry’s disease, Begbie’s disease and Marsh’ disease. Cases of this condition are, former US President George HW  Bush, former British comedian Marty Feldman and Barbara Leigh, present spokeswoman for the National Graves’ Disease Foundation.

Defining graves’ disease

Graves’ disease is a disorder of the immune system which results in the overproduction of the thyroid hormone. Since this hormone is associated with affecting a number of different body systems the signs and symptoms associated with Graves’ disease can be widespread and have a significant influence on an individual’s well-being. Graves’ disease is rarely a life-threatening condition and has been found to be more predominant in women around the age of 40.

Causes of graves’ disease

The rate of metabolism in the human system is associated with the amount of hormones being produced by the thyroid gland. If there is an overabundance in the hormone generation then the overall metabolism rate increases and such symptoms as sweating, trembling and weight loss are commonly observed. The production orders for the thyroid gland are given by the Thyroid Stimulating Hormone from the pituitary gland in the brain. When Graves’ disease sets in, a large number of abnormal antibodies are produced that mimic these TSH hormones and cause an overabundance in the thyroid hormone production. It is unclear as to why the immune system produces such aberrant antibodies. Heredity and other characteristics play a determining role in the susceptibility of the disease. Studies have been conducted to find, that if one twin has the disease then the other has a 20% chance of contracting it as well. Women are also more prone to this problem and smokers who develop this condition are more likely to have eye problems. It is not one single gene that brings about this problem but a combined condition of both environmental and genetic factors.

Graves’ disease and genetics

Age, smoking, stress and family history are some of the factors commonly associated with the Graves’ disease. The factor of family members being a victim of this condition increasing one’s susceptibility to the disease, clearly suggests that genetic components are largely involved.

In the year 2007, scientists at the UCLA Jules Stein Eye Institute and Harbour UCLA Medical centre, came across a defect on the human T-cell. In patients with Graves’ disease, it was observed that these immune cells bore a surplus of the receptor cells that is targeted by the same antibody which fails to recognize the thyroid gland as self. This was believed to be the fault which resulted in the growth of this cell in abundance even after it was meant to be dead causing a situation where in the body ends up attacking itself. Various versions of the susceptibility genes such as CD40, CTLA4 and PTPN22 have been observed in Graves’ disease patients with specific alleles making the person more predisposed to the condition. Vitamin D-binding protein genes have also been linked with the Graves’ disease as they have less Vitamin D in their blood than average patients.

Prognosis of the disease

Grave Disease can lead to more severe problems such as birth defects in pregnancy, miscarriages and even death in extreme cases if left untreated for a long time. It is often accompanied by an increase in heart rate and may lead to complications of the heart and eventually stroke. Bulging of the eyes may cause secondary corneal infections, blindness and also put excess pressure on the optic nerve, which may in turn cause loss of vision and cause visual field defects.

Interested in our genetic health services and want to know more about the immune system diseases we test for? Read up about Lupus or perhaps the causes and symptoms of Psoriasis.

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