Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients

Article Abstract:

Polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also referred to as autoimmune polyglandular disease Type I, is characterized by failure of several glands, including the parathyroid, adrenal cortex (part of the adrenal gland that produces steroid hormones), gonads (sex organs), and thyroid; hepatitis; chronic candidiasis, a fungal infection; and a variety of growth disorders of the teeth, nails, hair, and skin. Autoimmune diseases, such as APECED, occur when the body's immune system attacks its own cells. Case record were reviewed for 68 Finnish patients with APECED, who belonged to 54 families and represented all documented cases of APECED in Finland between 1910 and 1988. Sixty-one patients were examined. These patients had, on average, four disease components, with the most common (54 patients) symptom being hypoparathyroidism (insufficient action of parathyroid hormone, which regulates metabolism of calcium and phosphorus). Failure of the adrenal cortex, which is associated with deficits in cortisol and aldosterone (hormones that regulate a variety of physiological processes), was present in 49 patients. Gonadal failure was noted in 15 of 25 females and 4 of 28 males. All the patients had oral candidiasis at some time. The first signs of the disorder were non-endocrine in 78 percent of the patients, who initially developed oral candidiasis (41 patients), intestinal malabsorption (poor digestion, 6), keratopathy (disease of the cornea, 3), hepatitis, skin and hair abnormalities (1 each). For many APECED patients symptoms occurred episodically. Fifty-nine of the patients were alive when the study ended. Of the 38 patients who were more than 18 years of age, 35 were studying or working at a variety of professions. Three had retired prematurely. Six had received vocational training for the handicapped. Infertility was a common problem. Patients with APECED may develop few or many symptoms. Life-long follow-up is required, since new components may develop several decades after symptoms first appear. (Consumer Summary produced by Reliance Medical Information, Inc.)

Finland, Genetic aspects

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Neuronal proteins and paraneoplastic syndromes

Article Abstract:

Paraneoplastic syndrome, a condition indirectly caused by a tumor, is an early indication of lung and ovarian cancer. These syndromes take the form of abnormalities of the peripheral or central nervous system and often appear prior to the discovery of the cancer. Paraneoplastic syndrome was discussed in two articles that appeared in the Dec 7, 1989, issue of The New England Journal of Medicine. The article by McEvoy et al. discussed methods of therapy for Lambert-Eaton myasthenic syndrome, a condition that results in muscle weakness. In the article by Thirkill et al., a case of sensory dysfunction was reported and the resulting loss of vision was discussed. In this editorial the author reviews recent theories that have been proposed to account for these and other paraneoplastic phenomena. The principle explanation focuses upon the immunological response of the body to the presence of a cancer tumor. This theory explains the presence of antibodies that has been observed in conjunction with paraneoplastic syndrome, as documented in the case described by Thirkill et al. A dual effect is suggested in which the body's immunological response (to tumor growth) may slow the progress of the cancer and result in the neurological impairment witnessed in paraneoplastic syndromes. A difficult situation is also created in terms of treatment because the use of immunosuppressant drugs to control paraneoplastic syndrome may accelerate the growth of the cancer. Although evidence in support of this immunological theory seems to be reliable, the precise etiology of this group of syndromes is still unknown and further research is needed.

Care and treatment, Evaluation, Paraneoplastic syndromes, Causes of, Cancer, Immune response, editorial

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Receptor autoimmunity in endocrine disorders

Article Abstract:

The endocrine glands function by means of feedback loops that regulate the production of hormones, such as thyroxine, or substances that are not hormones, such as glucose. Endocrine function can be impaired by the development of autoimmunity, in which the body's immune system attacks its own cells. In these situations, antibodies are produced which damage cells. One group of autoantibodies are those that attack endocrine cell receptors that normally are stimulated by so-called 'trophic' hormones. A review is presented of receptor autoimmunity in endocrine organs. Effects of autoantibodies in various endocrine disorders are discussed including effects on the following areas: the thyroid gland, which is associated with Graves' disease; the pancreas, leading to insulin-dependent diabetes; the adrenal glands, which associated with Cushing's syndrome; cells in the stomach that secrete gastric acid, causing reduced secretion; the sex glands, which can result in premature menopause; and the parathyroid glands, which secrete parathyroid hormone, important for regulating calcium levels. The autoimmune mechanisms that lead to endocrine gland failure include cell destruction and atrophy, as well as inhibition of function. Modern immunological techniques should ultimately enable manipulation of these mechanisms to treat endocrine disease of autoimmune origin. (Consumer Summary produced by Reliance Medical Information, Inc.)

Physiological aspects, Receptor antibodies, Endocrine gland diseases, Endocrine diseases

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