Porphyrias: Medical History

Medical history (history of illness) represents an important component in the diagnosis of porphyria.

Family history

  • What is the general health of your relatives?
  • Are there any hereditary diseases in your family?

Social history

  • What is your profession?
  • Are you exposed to harmful working substances in your profession?
  • Is there any evidence of psychosocial stress or strain due to your family situation?

Current medical history/systemic history (somatic and psychological complaints).

  • Do you suffer from severe abdominal pain?
  • Do you suffer from gastrointestinal symptoms such as nausea, vomiting, constipation?
  • Have you noticed any muscle weakness? If so, where?
  • Have you observed any neurological deficits such as paralysis, sensory disturbances?
  • Do you suffer from mood swings?
  • Do you experience epileptic seizures?
  • Have relatives, friends, acquaintances reported to you that you sometimes seem confused?
  • Do you react to light/sun exposure with morbid, painful skin changes?
  • Has your skin turned brownish? (not due to sun bathing)
  • Is your urine turning red in the toilet? Have you noticed red spots (not blood) in your underwear?
  • Do the symptoms occur episodically?
  • How long do the complaints last (hours, days, weeks)?
  • Do you have high blood pressure? Palpitations? Restlessness?
  • Are you able to sleep well? Are you tired?

Vegetative anamnesis incl. nutritional anamnesis.

  • Do you drink alcohol? If so, what beverage(s) and how many glasses of each per day?

Self-history

  • Operations
  • Allergies
  • Pregnancies
  • Environmental history [organic solvents (as found in painting and dry cleaning businesses), lead, toxic chemicals]

Medication history – possible triggers / triggers – porphyria centers of excellence provide information on the compatibility or suitability of drugs.