About apeced syndrome

What is apeced syndrome?

APECED syndrome or Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome is a genetic disorder. People suffering from apeced syndrome have inherited it from their parents. As the name suggests, apeced syndrome is an autoimmune disorder and multiple organs are affected. In an autoimmune disorder, the body’s own immune system attacks the healthy cells thinking that those healthy cells are actually harmful pathogenic antibodies. People suffering from apeced syndrome are often dealing with severe Candida yeast infections. The exact nature of this rare genetic condition can be understood when the terminologies are described. The disease is autoimmune in nature and, people suffering from this disease are often subjected to endocrine gland disorders. This is also known as polyendocrinopathy. Yeast infection or candidiasis is another prevalent condition seen in people suffering from apeced syndrome. The condition is genetic and hence, causes ectodermal dystrophy meaning that the condition causes weakness and degeneration of the ectoderm that is responsible for the formation of tissues and structures.



What are the symptoms for apeced syndrome?

Being an autoimmune disorder, apeced syndrome can affect multiple organs and the symptoms can vary depending on which organs are affected. But, when doctors suspect apeced syndrome, they look for three primary conditions that are known as the triad of APECED. These three conditions are Addison’s disease, hypoparathyroidism, and chronic mucocutaneous candidiasis (CMC). if any two out of these three are simultaneously detected, it is confirmed that the person is suffering from apeced syndrome.

Addison's disease symptoms include:

·        Hyperpigmentation

·        Extreme fatigue

·        Sudden and unexplained weight loss

·        Abdominal pain

·        Nausea and vomiting

·        Muscle pains

·        Hypoglycemia

·        Low blood pressure that causes Fainting spells

 

Hypoparathyroidism symptoms include:

·        Paraesthesia or tingling sensation in fingers, toes, or lips

·       Skin becoming dry and rough

·        Cramps felt specifically in the legs

·        Uncontrolled twItching of facial muscles

·        Sudden mood swings

·        Hair loss

·        Nails become brittle

·        Menstruation becomes painful

 


Chronic mucocutaneous candidiasis symptoms include:

·       Thrush or mouth infections

·        Infections are seen on scalp

·        Mucous membrane infection

 



What are the treatments for apeced syndrome?

Treatment for the apeced syndrome relies on the condition of the patient, the diagnosis of the diseases and conditions associated with the syndrome, and the severity of the condition. Treatment may include medications and other therapies to help manage the conditions of yeast infections, autoimmune disorders, and endocrine gland disorders. Some treatments may be specific for apeced syndrome, while others are standard treatments for conditions experienced by patients who have inherited apeced syndrome, such as hypoparathyroidism or liver diseases like hepatitis. Because apeced syndrome affects many of the body’s organs and tissues, optimal care requires constant monitoring of the patient and opting for changes in the lifestyle to prevent additional diseases. People diagnosed with apeced syndrome are often advised to specifically be alert about the yeast infection for this is the leading cause of death.



What are the risk factors for apeced syndrome?

Being an autoimmune disorder and the main organs affected are the thymus and the parathyroid and this leads to various hormonal imbalances in the body. When detected early, people do have a fair chance of leading a normal life as long as they keep track of their conditions and take medications that are prescribed for the same. In case of yeast infections or candidiasis, special care is required to ensure that kids do not let the infection go untreated. While the disorder is primarily recessive in nature, a recent study did find cases where the disorder is linked to autosomal dominant inheritance. In such instances, even if one parent is diagnosed with this condition, there is a greater chance that their offspring will have this disorder.



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