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Participant 007


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Male, age 35 with triple A syndrome (achalasia (esophagus damage), Addison disease (adrenal gland disorder), and alacrima (inability to produce tears)) of unknown cause

Date of Report

Aug 05, 2016

Description

The patient has multiple chronic medical problems including esophagus damage (achalasia), low cortisol, an inability to produce tears (alacrimia), severe pain with urination, delayed gastric emptying (gastroparesis), autonomic nervous system dysfunction (dysautonomia), increased heart rate (supraventricular tachycardia), and bipolar affective disorder. The patient also recently transitioned from female to male with testosterone therapy.

Symptoms / Signs
  • Autonomic nervous system dysfunction (dysautonomia)
  • Low cortisol
  • Low blood pressure (orthostatic hypotension)
  • Low body temperature
  • Increased blood urea nitrogen (BUN)
  • Adrenal gland disorder (primary adrenal insufficiency/Addison disease)
  • Bipolar affective disorder
  • Depression
  • Extreme fatigue
  • Migraines
  • Dizziness (vertigo)
  • Inability to produce tears (alacrimia)
  • Decreased feeling in corneas
  • Conjunctivitis (acute atopic)
  • Dry eyes (keratoconjunctivitis sicca)
  • Acne
  • Dry skin
  • Hives (urticaria)
  • Asthma
  • Allergies to sulfa antibiotics and adhesives
  • Teeth grinding (bruxism)
  • Sleep apnea
  • Difficulty swallowing (dysphagia)
  • Increased heart rate (supraventricular tachycardia)
  • Esophagus damage (achalasia)
  • Heartburn (gastroesophageal reflux)
  • Regurgitation
  • Nausea
  • Celiac disease
  • Gluten and lactose intolerant
  • Delayed gastric emptying (gastroparesis)
  • Constipation
  • Abdominal pain
  • Abdominal distention
  • Kidney inflammation (pyelonephritis)
  • Painful bladder condition (interstitial cystitis)
  • Bladder spasms (spastic/hyperactive bladder)
  • Recurrent urinary tract infections
  • Shrinking bladder
  • Abnormal urine output (slow stream)
  • Urinary frequency and urgency
  • Muscle soreness in pelvic floor (pelvic floor myalgia)
  • Painful menstruation (dysmenorrhea)
  • Muscle pain (myalgia)
  • Joint stiffness
Current Treatments
  • Botox injections- constipation
  • Gastric tube
Prior Treatments
  • Urethral dilatation, neurostimulator placement, pudendal nerve block and ablation- bladder dysfunction
  • Cystectomy and suprapubic catheter- interstitial cystitis, pelvic floor myalgia, retention, shrinking bladder
  • Removal of urethra- interstitial cystitis
  • Cauterization of tear ducts- alacrima
  • Testosterone therapy- transition from female to male
Considered treatments
  • Triple A syndrome (achalasia, Addison disease, and alacrima)- no change in the only gene known to cause AAAS
Previously Considered Diagnoses
  • Triple A syndrome (achalasia, Addison disease, and alacrima) – no change in the only gene known to cause AAAS
Other Photographs
Genetic Variants of Interest
Contact

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