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Participant 220

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Male, age 49, with intermittent episodes suggestive of pheochromocytoma, elevated urinary metabolites, testicular pain, and a neuroendocrine tumor

Date of Report

Jan 18, 2024


At 43 years old, the participant had a colonoscopy and endoscopy due to stomach bloating/distention, pain, and burping/indigestion. Routine tissue samples were collected for testing. Pathology results revealed a type 1 gastric neuroendocrine tumor, Crohn’s disease, autoimmune atrophic gastritis, pernicious anemia, and low stomach acid. The gastric neuroendocrine tumor was not aggressive, and he had no symptoms related to carcinoid syndrome at that time. The tiny gastric neuroendocrine tumor was completely removed by endoscopy and was believed to be caused by a combination of factors including autoimmune atrophic gastritis, low stomach acid, and pernicious anemia. Condition managed with regular scope procedures including mapping.

Two years later, he began having episodes of rapid heart rate, anxiety, hypertension, chills, full body tremors, teeth chattering, sweating, stomach distention, severe burping, feeling disoriented, and sense of impending doom. These episodes lasted 1 to 2 hours, occurring roughly 25 days out of the month. These episodes were concerning for a hormone-secreting tumor on top of the kidneys known as a pheochromocytoma. However, through medication, the severity and frequency of the episodes improved. During or after an episode, the participant’s urine has shown abnormal results (elevated catecholamines, heptacarboxyporphyrin, coproporphyrin, delta Ala, porphobilinogen, and methyl histamine).

At 47 years old, the participant was noted to have a tear along the inside lining of his iliac artery (iliac artery dissection). Additionally, the participant has other heart differences (thickened left ventricular wall, left ventricular hypertrophy, small leak in one of the heart valves).

The participant experiences stomach issues, such as low stomach acid (hypochloridria), burping, heartburn, inflammation of the stomach (atrophic autoimmune gastritis), increased levels of gastrin hormone (hypergastrinemia), elevated CgA, and Crohn’s disease. Additionally, the participant experiences a number of other health issues, such as kidney stones (renal stones), fatty liver, and an enlarged spleen (splenomegaly).

The participant also has arthritis, calcium buildup (diffuse calcifications), vascular malformations (varicose veins in both legs and a hemangioma of L4 vertebral body), back pain, leg pain (sciatica), and testicular pain (varicoceles, hydroceles, and cysts). Through a sleep study, the participant was also diagnosed with a sleep disorder (REM sleep disturbance).

The participant also has a family history of psychiatric disorders and severe hypertension that may be suggestive of a family history of pheochromocytomas.

The participant is being treated with medication only at this time. Due to other contributing genetic factors, surgery is not recommended unless his symptoms worsen, hormones become dangerously elevated, or an adrenal tumor is more evident on imaging.

Symptoms / Signs
  • Intermittent episodes suggestive of pheochromocytoma (rapid heart rate, anxiety, hypertension, chills, shaking, teeth chattering and sweating)
  • Neuroendocrine tumor
  • Elevated urinary metabolites (elevated catecholamines, heptacarboxyporphyrin, coproporphyrin, delta Ala, porphobilinogen, and methyl histamine)
  • Testicular pain (varicoceles, hydroceles, and cysts)
  • Sleep disorder (REM sleep disturbance)
  • Anemia (pernicious anemia)
  • Overactive parathyroid (hyperparathyroidism)
  • Heart differences (iliac artery dissection, thickened left ventricular wall, left ventricular hypertrophy, small leak in one of the heart valves)
  • Back pain
  • Increased levels of gastrin hormone (hypergastrinemia)
  • Low stomach acid (hypochloridia)
  • Burping
  • Heartburn
  • Autoimmune inflammation of the stomach mucous membrane (atrophic autoimmune gastritis)
  • Crohn’s disease
  • Fatty liver
  • Enlarged spleen (splenomegaly)
  • Kidney stones (calcium oxalate)
  • Hernia on groin (inguinal hernia)
  • Leg pain (sciatica)
  • Varicose veins
Current Treatments
  • Allopurinol
  • Amlodipine besylate
  • Doxazosin mesylate
Prior Treatments
  • Valium
Considered treatments
Previously Considered Diagnoses
  • Porphyria
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

If this participant sounds like you or someone you know, please contact us!


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