A Rare Disease? Maybe Not

By Carlos Barbosa, MD

The key to survival of any species depends on the number of battles that the specie wins against environmental factors such as climate changes, presence of predators, food deprivation, and infectious agents including parasites, fungi, bacteria, and viruses.

Humankind has been successful in fighting and winning all of these battles, and now we are the dominant specie on earth. We have significant advances in the treatment of infectious diseases, nutritional deficits, metabolic conditions as well as a slow but continuous improvement in the understanding and management of cancer and cardiovascular diseases.

However, there is a silent and lethal enemy with an increasing frequency in diagnosing, able to attack every organ or system of the body, known as autoimmunity. This enemy is particularly important because it uses inflammation; a response designed by human evolution to fight against infectious agents and combat defective body cells.

When the Immune System loses its harmonic synchrony and is not able to recognize some cells and other substances of the body as a part of its own organism, it generates an immune response. This reaction includes cell infiltration that promotes inflammation and produces cellular death through specialized killer cells (cellular immunity) and the production of antibodies (humoral immunity).

One of the most frequent autoimmune diseases is Hashimoto Thyroiditis. Its name derives from. The Japanese physician Hakaru Hashimoto (18881-1934) who reported it at the beginning of the previous century.

The thyroid is a small gland located in the front of the neck. It produces a thyroid hormone that controls how the body uses energy. Hashimoto Thyroiditis is also known as chronic lymphocytic thyroiditis. It is an autoimmune disorder that destroys thyroid cells through a cellular and antibody-mediated immune process producing fibrosis impairing the thyroid gland’s ability to produce thyroid hormone.

Hashimoto Thyroiditis appears to develop as a result of a complex interaction between predisposing genes (70%) and environmental triggers (30%) like ionic radiation, or some viruses like Hepatitis C. However, the fine details of this interaction are still poorly understood.

The incidence is estimated as 0.8 x 1000/year in males and 3.5 x 1000/year in females, affecting approximately 2% of Americans. As with all autoimmune diseases females are 4 to 10 times more frequently affected. The disease tends to run in families, occurring more commonly among middle-aged women, but can be seen at any age, regardless of age and sex.

The presence of other autoimmune diseases, like Rheumatoid arthritis, Diabetes type 1, Celiac disease, pernicious anemia, and Addison Disease may increase the risk of getting Hashimoto Thyroiditis. The symptoms are insidious and variable, may affect almost any organ in the body. Many patients with Hashimoto Thyroiditis have no symptoms at onset, but as the disease progresses the patient may manifest symptoms of Hypothyroidism like: Fatigue, exertional dyspnea, exercise intolerance, trouble tolerating cold, weight gain, joint and muscle pain, increased muscle fatigue and weakness, constipation, Depression, Ataxia, slow speech and cognition, absence of tendinous reflexes, dry skin, thinning of hair, alopecia, heavy or irregular periods, slow heart rate, and increase in blood pressure. In some patients, the presentation may have bouts of hyperthyroidism with enlargement of the gland known as Goiter, but then progressively develop signs and symptoms of Hypothyroidism.

The diagnosis is often challenging and may take time until later in the disease process. It is based on a complete medical examination and clinical history, as well as blood work including levels of TSH, T3, T4, and Thyroid Peroxidase Antibodies. Thyroid Peroxidase is an enzyme that plays a role in the production of thyroid hormones. No correlation has been found between antibodies levels and disease severity. Other antibodies that may be tested include antithyroglobulin and Anti TSH Receptor blocking antibodies. The imaging of an ultrasound will assess thyroid size, echo texture and whether thyroid nodules are present, but usually do not contribute to the diagnosis.

The treatment of Hashimoto thyroiditis depends on whether the thyroid is damaged enough to cause hypothyroidism. Patients with elevated TPO antibodies but normal TSH and thyroid hormone levels do not require treatment.

Synthetic Levothyroxine taken orally at an appropriate dose (1.6 to 1.8 mgr./kg./day) is remarkably effective in restoring normal thyroid hormone levels and reversing the symptoms of hypothyroidism. Most patients require lifelong treatment. Finding the appropriate dose may require testing with TSH every 6 to 8 weeks after any dose adjustment. After a working dose is reached an annual TSH test will be required.

When levothyroxine is taken in the appropriate dose, it has no side effects, however, when an insufficient dose is taken, serum TSH will remain elevated and patients may have persistent symptoms of hypothyroidism. If the dose is excessive, serum TSH will become suppressed and patients may develop symptoms of hyperthyroidism or have serious side effects, like a form of tachycardia called atrial fibrillation, patients may also develop tremors, osteoporosis and mental changes such as anxiety and mania.

Some foods and supplements can affect how levothyroxine is absorbed, for example, grapefruit juice, soy, espresso coffee, and multivitamins that contain calcium and iron, therefore it is recommended to take the medicine on an empty stomach to prevent abnormal absorption.

Untreated hypothyroidism can lead to several health problems including high cholesterol, heart disease, heart failure, high blood pressure, and myxedema, a rare condition in which body functions slow down to the point that the life of a patient may be threatened.

Hashimoto thyroiditis is a lifelong disorder with no cure, thus it is best managed by an interdisciplinary team, that includes the primary physician, the endocrinologist as well as other specialists.

At one source pediatrics, we have a strong alliance with several pediatric specialist's groups, that help us diagnose and treat our patients.

Doctors at One Source Pediatrics share the commitment to understand and treat pediatric conditions at the earliest possible stage to prevent irreparable tissue or organs damage and prevent secondary complications.

▸One Source Pediatrics is located at 1625 N Commerce Pkwy Suite 205, Weston FL, 33326. For more information, please call (954) 659-8550.

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