Symptoms
The different porphyrias are mainly classified according to the type and location of symptoms into liver-associated (hepatic), red blood cell formation-related (erythropoietic), skin-associated (cutaneous), non-skin-associated (non-cutaneous), and acute and non-acute porphyrias. Many porphyrias are characterized by long inconspicuous phases and are sometimes only discovered in later decades of life. Mild forms often remain hidden (subclinical course).
Typical is an occurrence in thrusts, which can, however, be long apart. The triggers are various strains such as stress, other diseases or medication. Depending on the form of porphyria, the symptoms can vary greatly, but a wide range of symptoms is common: The symptoms of light intolerance (phototoxicity), especially in erythropoietic protoporporphyria), paleness due to anemia, reddish teeth, increased body hair and aversion to garlic and related plants, sometimes associated with porphyry subspecies, are sometimes referred to as werewolf or vampire symptoms, and may well have contributed to the creation of legends about them.
- Digestive tract-associated complaints (gastro-intestinal complaints) such as nausea, vomiting, abdominal pain and cramps, and colic,
- Neurological and psychiatric symptoms,
- Skin symptoms and
- Circulatory problems with increased pulse (tachycardia) and high blood pressure (hypertension).
Diagnosis
The diagnosis of porphyria is often a lengthy process. However, this is not because there is a lack of the necessary tests (it is quite easy to detect the enriched precursors of heme in the urine by larboric techniques), but rather because the symptoms are very variable. This means that other causes are often the first to be considered for the symptoms.
This is aggravated by the fact that elevated levels of heme precursors in urine are often only detected during a “push”. In some forms of pophyria it is typical that standing urine turns reddish in the course of time due to contact with air.If the disease has a genetic cause, a genetic analysis of the affected person can also be revealing. This is often essential to clarify whether the defect is hereditary and whether family members could also be affected.
