Graves disease

| thyroid eye disease

Summary

Graves’ disease is an autoimmune thyroid disease which causes the thyroid gland to produce excessive hormones. Symptoms may include nervousness, weight loss, heart palpitations and intolerance to heat. Women are affected seven times more often than men and are predominantly diagnosed between 20-40 years of age. A distinguishing characteristic of Graves’ is an eye condition causing inflamed eye muscles with accompanying bulging of the eyes (exophthalmos). Approximately 30-50% of Graves’ patients develop this condition in its mild form and about 5% develop the severe form. Although rare, “thyroid storm” can occur. Symptoms of this thyroid crisis include fever, vomiting, elevated heart rate, confusion and profuse sweating and requires immediate emergency attention.

(Autoimmune Association, 2022)

Symptoms

Common signs and symptoms of Graves' disease include:

• Anxiety and irritability

• A fine tremor of the hands or fingers

• Heat sensitivity and an increase in perspiration or warm, moist skin

• Weight loss, despite normal eating habits

• Enlargement of the thyroid gland (goiter)

• Change in menstrual cycles

• Erectile dysfunction or reduced libido

• Frequent bowel movements

• Bulging eyes (Graves' ophthalmopathy)

• Fatigue

• Thick, red skin usually on the shins or tops of the feet (Graves' dermopathy)

• Rapid or irregular heartbeat (palpitations)

• Sleep disturbance

Graves' ophthalmopathy

About 30% of people with Graves' disease show some signs and symptoms of Graves' ophthalmopathy. In Graves' ophthalmopathy, inflammation and other immune system events affect muscles and other tissues around your eyes. Signs and symptoms may include:

• Bulging eyes

• Gritty sensation in the eyes

• Pressure or pain in the eyes

• Puffy or retracted eyelids

• Reddened or inflamed eyes

• Light sensitivity

• Double vision

• Vision loss

Graves' dermopathy

An uncommon manifestation of Graves' disease, called Graves' dermopathy, is the reddening and thickening of the skin, most often on your shins or the tops of your feet.

(Autoimmune Association, 2022)

Diagnostic Criteria

Under Investigation

Diagnostic Tests

Under Investigation

Organized Autoimmunity

(Alternative Autoimmune Disease Classification: FIEM, MIEM or BIEM)

1. sex predominance (is an autoimmune disease primarily found in genetic Females, Males, or equally in Both?)

   1. Female, Male, or Both. (Autoimmune Association, 2022)

2. Inherited gene variations that cause increased susceptibility

   1. Human Leukocyte Antigen (HLA) Associations

      1. Under Investigation

   2. Other Gene Variations (mutations)

      1. CTLA4 cytotoxic T-lymphocyte associated protein 4 [ Homo sapiens (human)] “This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases.” (National Institutes of Health, 2023)

      2. protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene (National Institutes of Health, 2022)

3. Gene Triggering Environmental Exposures

   1. Infections

      1. Under Investigation

   2. Toxins

      1. Under Investigation

   3. Stress

      1. Under Investigation

4. Multiple interactive and destructive immune system pathologies

   1. Under Investigation

Tissue-Type or Cell-Type Attacked

Under Investigation

Treatment(s)

Under Investigation

Managing Specialist(s)

Under Investigation

Research Authors

Under Investigation

Research Institutions

Under Investigation

Average Time from Symptom Onset to Diagnosis

Under Investigation

Last Updated

February 17, 2023

References

Graves disease. Autoimmune Association. (2022, September 02). Retrieved December 04, 2022, from https://autoimmune.org/disease-information/graves-disease/

CTLA4 cytotoxic T-lymphocyte associated protein 4 [ Homo sapiens (human) ]. National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, Gene Database. (2023). Retrieved February 17, 2023 from https://www.ncbi.nlm.nih.gov/gene/1493

PTPN22. National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information. (2022, November 07). Retrieved December 04, 2022, from https://www.ncbi.nlm.nih.gov/gene/26191