Porphyrias: Symptoms, Complaints, Signs

The following symptoms and complaints may indicate porphyria:

Major symptoms-acute porphyrias [acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), Doss porphyria, porphyria variegata (PV)]

  • Colicky abdominal pain
  • Nausea, vomiting
  • Constipation (constipation)
  • Neurologic deficits – muscle weakness (beginning in the extremities), paresis (incomplete paralysis), paralysis (complete paralysis), sensory disturbances (sensory disturbances), epileptic seizures (convulsions)
  • Psychiatric complaints – mood swings, delirium (states of confusion), psychosis.
  • Urine turns red/reddish-brown (in one-third of sufferers) after prolonged exposure to air (dark stains in underwear indicate this) – seen during an attack.
  • Light intolerance reactions [PV, HCP]

Associated symptoms

  • Fever
  • Hypertension (high blood pressure)
  • Tachycardia (heartbeat too fast: > 100 beats per minute).
  • Restlessness

An attack is often preceded by symptoms such as insomnia, fatigue and constipation (constipation). The episodes develop over hours to days and can last several weeks.

Main symptoms – cutaneous porphyrias [erythropoietic porphyria (EPP), hereditary coproporphyria (HCP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), porphyria variegata (PV)].

  • Severe, painful photosensitivity of the skin → skin and tissue damage such as tissue death, scarring, disfigurement (loss of lips, nose, auricle, finger parts, etc.) [CEP, HEP].
  • Blistering of the skin
  • Pain caused by exposure to the sun, against which only opiates help.
  • Brown coloration of the skin (due to porphyrins being stored in it).
  • Erythrodontia – incorporation of porphyrins into the teeth and bones [CEP].
  • Steatosis hepatis (fatty liver) or cirrhosis of the liver due to storage of porphyrins in the liver.
  • In erythropoietic porphyria (EPP), in early stages of the disease, there are initially no visible changes in the skin when exposed to sunlight, although pain is felt. Only after 12-24 hours, redness, swelling as well as burns are visible.

“Dracula symptomatology” because of:

  • Erythrodontia (“blood teeth”; more or less reddish discoloration due to storage of porphyrins).
  • Photophobia (daytime sleepers)
  • Anemia (pallor due to heme deficiency/lack of red blood pigment).

“Werewolf symptomatology” due to:

  • Hypertrichosis (androgen-independent increased body and facial hair; here: increased facial hair – forehead, cheeks, around the eyes – after healing of photodermatosis).
  • Erythrodontia (“blood teeth”)
  • Nose and / or fingerlessness

Acute porphyria should be considered if the following triad is present: