The following are the most important diseases or complications that may be contributed to by porphyria: Neoplasms – Tumor diseases (C00-D48). Hepatocellular carcinoma [acute porphyrias] Psyche – Nervous System (F00-F99; G00-G99). Persistent paresis (paralysis) [acute porphyrias.] Genitourinary system (kidneys, urinary tract-genital organs) (N00-N99). Renal insufficiency (renal weakness) [acute porphyrias.] Renal failure [acute porphyrias]
Porphyrias can be classified according to various criteria, although there may be overlap. For example, in the context of symptomatology and therapy, acute forms are distinguished from cutaneous forms, although they are differentiated according to different aspects. According to the cause, a distinction is made between primary and secondary porphyrias: Primary porphyrias Acute intermittent porphyria … Porphyrias: Classification
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body temperature, body weight, body height; furthermore: Inspection (viewing). Skin Sun/light intolerance reactions → skin and tissue damage. Redness Swellings Burns Blistering of the skin Death of the tissue Scarring Disfigurements (loss of lips, nose, … Porphyrias: Examination
1st order laboratory parameters – obligatory laboratory tests. Detection of specific porphyria precursor stages in urine – qualitative urine test for porphobilinogen (PBG); if positive, quantitative measurements of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA). Acute intermittent porphyria (AIP): Urine staining in air? If red → evidence of acute porphyria, before and during an attack. Measurement … Porphyrias: Lab Test
Causal therapy does not exist for both acute and cutaneous forms of porphyria because the genetic defect is genetic. Therapeutic Targets Symptom relief Avoidance of triggering factors (exposure prophylaxis). Therapy recommendations Analgesia according to WHO staging scheme until definitive therapy when diagnosis is confirmed: Non-opioid analgesic: paracetamol, first-line agent for acute abdominal pain. Low-potency opioid … Porphyrias: Drug Therapy
Obligatory medical device diagnostics. Abdominal ultrasonography (ultrasound examination of abdominal organs) – in the setting of porphyria cutanea tarda (PCT), the liver is enlarged; ultrasound usually shows steatosis hepatis (fatty liver) or liver cirrhosis
In the setting of acute intermittent porphyria (AIP), liver transplantation (LTx; implantation of a foreign organ) is an option and may lead to cure. The procedure corrects the deficiency of the enzyme hepatic porphobilinogen deaminase (PBG-D), subsequently normalizing levels of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA). Liver transplantation may also be required for protoporphyria (secondary … Porphyrias: Surgical Therapy
Because porphyrias are genetic, disease cannot be prevented. However, appropriate behavior can reduce the risk of an attack or episode. Primary porphyrias An attack/flash in the setting of acute porphyrias can be triggered by the following factors: Behavioral triggers Diet Carbohydrate deficiency due to (crash) diets Hunger states – attention must be paid to regular … Porphyrias: Prevention
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 – … Porphyrias: Symptoms, Complaints, Signs
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 … Porphyrias: Medical History
Certain conditions originating in the perinatal period (P00-P96). Crigler-Najjar syndrome type 1 – neonatal icterus caused by the absence of a specific enzyme (glucuronyltransferase). Blood, blood-forming organs – immune system (D50-D90). Hemolysis (dissolution of erythrocytes/red blood cells). Endocrine, nutritional, and metabolic diseases (E00-E90). Dubin-Johnson syndrome – genetic disease with autosomal recessive inheritance leading to bilirubin … Porphyrias: Or something else? Differential Diagnosis
Pathogenesis (disease development) Heme is a component of hemoglobin (red blood pigment) in erythrocytes (red blood cells), myoglobin (red muscle pigment), and cytochromes (enzymes that are important in the breakdown of drugs, among other things). It consists of a porphyrin in the middle of which there is an iron ion. The formation of heme takes … Porphyrias: Causes