[Chronic pain and artificial diseases]

Area of Science:

• Nephrology
• Internal Medicine
• Genetics

Background:

• Gitelman syndrome is a rare genetic disorder affecting kidney salt reabsorption.
• Complex pain disorders can present diagnostic challenges.
• Factitious disorders, where symptoms are intentionally produced, can mimic organic diseases.

Purpose of the Study:

• To investigate the cause of recurrent severe hypokalemia in a patient with a suspected, yet genetically unconfirmed, diagnosis of Gitelman syndrome.
• To differentiate between a rare genetic disorder and an intentionally induced condition.

Main Methods:

• Clinical case presentation and detailed patient history.
• Monitoring of blood parameters during different care settings (routine ward vs. intensive care).
• Review of patient belongings and subsequent patient admission of self-medication.

Main Results:

• The patient presented with severe hypokalemia and a narcoleptic attack, initially attributed to Gitelman syndrome.
• Hypokalemia recurred immediately upon transfer from intensive care to a routine ward.
• Discovery of diuretics and laxatives in the patient's belongings led to admission of self-medication, suggesting an artificial disorder.

Conclusions:

• The patient's symptoms were not due to Gitelman syndrome but were iatrogenically induced by excessive diuretic and laxative use.
• This case underscores the importance of considering factitious disorders in the differential diagnosis of complex electrolyte imbalances and suspected rare genetic conditions.
• Thorough investigation, including review of patient belongings and open communication, is crucial for accurate diagnosis.