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PSY 240

Spring 2013

AAA SyndromeChris Piel

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AlacrimaAn inability to secrete tears.

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AchalasiaAn inability of smooth muscle to move food properly down the esophagus

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Addisons diseasePoor adrenal functioning causes low levels of cortisol hormone, crucial to metabolism

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Background

Triple A syndrome is actually three diseases: Achalasia, Addisons disease and

Alcarima. Each disesease occurs independently of each the other, meaning onedoes not cause the other.

Achalasia: Improper esophagus functioning

Addisons disease: Improper functioning of adrenal glands

Alcarima: Inability to secrete tears.

Also known as Allgrove Syndrome -- discovered by Dr. Jeremy Allgrove in 1978.

Its an incredibly rare, genetic disease that can be managed.

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Genetic Causes

Scientists believe: ALADINhelps DNA-repairer-molecules(particularly crucial to nervous-system-cells) enter the cellnucleus.

Consequently, DNAmutations during celldivision go uncorrected andpatients cell function andhealth deteriorate over time.

AAAS Address: 12q13*

High Level: Dysautonomia,dysfunction of the automatic nervoussystem, which controls involuntary

processes such as digestion, bloodpressure, sweating, and otherprocesses.

There are no known environmentalcauses of Triple A disease. It is agenetic condition that worsens withtime.

Autosomal, AAAS Gene mutationscauses disease

What we know: AAAS gene controlsALADIN protein production. ALADINis located in the nuclear envelope. Itis dysfunctional in Triple A patients.

*Right next to where genes controlling keratin (skin protein)production are. A major symptom is the darkening of a patients skin.Do you think the genes location causes this symptom?

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Number of Cases

Incredibly few.

Unknown, very few reports exist. It likely goes undiagnosed in themajority of cases (Ferry, 2013; Chaurasiya, 2010).

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Symptoms: Early Development

Infants

Alcarima -- an inability to secrete tears,is the first sign in infants.

Childhood/Adolescence:

Achalasia -- improper esophagusfunctioning causes severe feedingdifficulties such as an inability toswallow, vomiting, and hyperglycemia

Addisons disease -- improper adrenalgland production of cortisol hormoneleads to fatigue, loss of appetite, weightloss, low blood pressure, and darkeningof the skin.

Sometimes:

Microcephaly/Small Head

Developmental delay, intellectualdisability

Because the condition worsens withtime, young children often goundiagnosed until adolescence or

adulthood. Proper diagnosis oftenoccurs after a severe hyperglycemicseizure.

*Which/when symptoms appear canvary greatly between patients* Why?Because the disease depends on thetype & frequency of DNA mutations.

2-minute synopsis: Addisons disease(YouTube)

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Symptoms: Late Development

Adulthood -- when neurological problemsbecome very apparent because conditionshave worsened over time. Symptoms can varygreatly, therefore a large combination usually

leads to adult diagnosis. Abnormal sweating

Difficulty regulating blood pressure

Unequal pupil size (anisocoria),

Speech problems (dysarthria)

Muscle weakness

Movement problems; nerve abnormalitiesin extremities (peripheral neuropathy).

Less common -- but still important

Thickening of the outer layer of skin(hyperkeratosis) on the palms of theirhands and the soles of their feet, otherskin abnormalities.

Optic atrophy (atrophy of the nerves that

carry information from the eyes to thebrain) is less common.

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Treatments

There are currently no treatments for the cause (faultyALADIN proteins) of AAA syndrome. Therefore each A istreated individually.

Addison disease

Regular cortisol hormone medication promotes normalmetabolism, normal growth in children, and preventsadrenal crisis. This is the most crucial treatment becausecortisol is key to proper metabolism and many basicfunctions.

Achalasia

Best treated with surgery to correct structural deformities,then with acid therapies if problems persist. Eat soft foodsif surgery is not an option.

Alacrima

Treat with eye drops.

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Lifespan Expectancy

With early diagnosis and proper treatment, patients can have anormal lifespan.

Primary cause of death among treated patients is an unexpectedadrenal crisis which, due to a shortness of cortisol hormones cancause seizures, coma or shock.

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Biological Domain

When AAA Syndrome goes untreated it can cause development delay(undersized, mild retardation) in children and adolescents due tohormone and nutritional deficiencies. Specifically...

Insufficient cortisol causes complications in metabolism (Addisons)

An inability to properly swallow food can cause malnourishment(Achalasia)

With treatment, children can develop normally.

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Cognitive Domain

Can cause mild retardation due to nutritional and hormonaldeficiencies. This is extremely rare and only occurs in untreatedsevere cases. This is more likely to occur with victims in rural,undeveloped societies, where modern medical attention is notavailable.

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Social & Emotional Domain

In uncomplicated cases, has no unique impact on the social andemotional development of an individual, other than the stresses andstrains caused by all forms of illness.

If complications cause severe developmental delays or mild mentalretardation than social and emotional impacts could potentially behigh.

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Jill

Jill is a young video blogger who wasdiagnosed with Addisons disease inadolescence. Addisons is the diseasewithin AAA syndrome that normally has thebiggest impact on a patients life.

Watch her discuss growing up with it(YouTube)

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References

Brooks, B.P., Kleta, R., Stuart, C., Tuchman, M., Jeong, A., Stergiopoulous, S.G.,Bei, T., Bjornson, B.,Russell, L., Chanoine, J.P., Tsagarakis, S., Kaisner, L., Stratakis, C. (2005). Genotypic heterogeneity andclinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. Clinical Genetics, 68(3): 215. Retrieved: http://openurl.ebscohost.com/linksvc/select.aspx?genre=article&sid=PubMed&issn=00099163&title=Clinical+Genetics&volume=68&issue=3&spage=215&atitle=Genotypic+heterogeneity+and+clinical+phenotype+in+triple+A+syndrome%3a+a+review+of+the+NIH+experience+2000-2005.&aulast=Brooks+BP&date=2005--&isbn=00099163

Chaurasiya, O.S., Kumar, L., & Nagapoonam, M.P. (2010). Allgrove Syndrome. Current PediatricResearch, 14 (2): 89-91. Retrieved from http://www.pediatricresearch.info/yahoo_site_admin/assets/docs/5.176180525.pdf

Ferry, R.J. (2013). Allgrove (AAA) Syndrome. In Medscape Reference. Retrieved from http://emedicine.medscape.com/article/919360-overview

Addisons Disease. (2012). In National Institute of Healths Medline Plus. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/000378.htm

Triple A Syndrome. (2010). In U.S. National Library of MedicinesGenetics Home Reference. Retrievedfrom http://ghr.nlm.nih.gov/condition/triple-a-syndrome