blood health

Porphyria symptoms

Definition

Porphyrias are a group of metabolic diseases, characterized by a deficiency of one of the enzymes involved in EME biosynthesis.

The EME group (or haematin) is part of the hemoglobin, myoglobin and cytochromes molecules, and is able to bind oxygen and other compounds.

In the presence of porphyria there is the accumulation of EME precursors, with toxic effects.

Depending on the enzymatic defect present, the deposition of these elements takes place in different locations (such as liver and bone marrow).

In most cases, porphyrias are hereditary diseases, caused by mutations in the genes coding for enzymes in the EMS biosynthetic pathway. Transmission can occur with an autosomal dominant pattern (it is sufficient to inherit an altered copy of the gene from one of the parents to manifest the disease) or autosomal recessive (it is necessary to inherit two altered copies of the gene from both parents).

The clinical signs of porphyria usually appear in adulthood, but, in some cases, may begin during childhood.

The most important clinical manifestations are of two types: neurovisceral alterations (characteristics of acute porphyrias) and photosensitivity in areas exposed to the sun (typical of cutaneous porphyrias).

Most common symptoms and signs *

  • Aggression
  • Hallucinations
  • Apathy
  • Arrhythmia
  • Asthenia
  • bubbles
  • Suicidal behavior
  • Conjunctivitis
  • Convulsions
  • Depression
  • Skin discoloration
  • Dyspnoea
  • Abdominal pain
  • Muscle pains
  • Edema
  • Erythema
  • Skin erosion
  • Temperature
  • Fotofobia
  • Insomnia
  • Hyperesthesia
  • Hypertension
  • hypertrichosis
  • Hyponatremia
  • Backache
  • Headache
  • Nausea
  • Nervousness
  • Eyes reddened
  • Paresthesia
  • itch
  • Urinary retention
  • Fatigue with spasms (spasmophilia)
  • Constipation
  • Sweating
  • Spastic tetraparesis
  • Tetraplegia
  • Skin Ulcers
  • Dark urine
  • blisters
  • He retched

Further indications

The porphyrias can be classified into two groups:

  • Acute : they are characterized by abdominal and / or neurological involvement; The most common symptoms of these forms include: muscle pain, fever, asthenia, insomnia, increased white blood cells (leukocytosis), tachycardia and hypertension. Furthermore, intermittent attacks of abdominal pain may occur, often associated with nausea, vomiting and constipation; these episodes are typically triggered by drugs and other exogenous factors (such as fasting, alcohol ingestion, exposure to organic solvents, infections and stress). Neurological and psychological symptoms may also occur in acute porphyria, such as loss of sensitivity (hyperesthesia and paresthesia), motor neuropathy, irritability, muscle weakness, emotional instability and convulsions. Crises develop over hours or days and can last up to several weeks.
  • Cutaneous : these forms occur with exclusively skin symptoms in the photoexposed areas (such as the face, neck and back of the hands) or subjected to trauma. These manifestations may be exacerbated by alcohol ingestion, estrogen, hepatitis C virus infection and exposure to halogenated hydrocarbons. Skin porphyrias tend to appear as an intermittent pathology, with a relatively constant production of phototoxic porphyrins in the liver or bone marrow. These molecules accumulate in the skin and, after exposure to sunlight, generate cytotoxic radicals that cause cutaneous manifestations, including photosensitivity, formation of blisters, fragile skin and bullous eruptions.

An abnormal urine color (red or brownish red) may be present in the symptomatic phases of all porphyrias (with the exception of erythropoietic protoporphyria and porphyria due to ALAD deficiency); this sign is due to the oxidation of porphyrins and / or porphyobilinogen (PBG).

The diagnosis is based on the urinary or hematic dosage of porphyrins and their precursors. Furthermore, it is possible to carry out genetic analysis, researching the mutations responsible in the genes involved.

As for therapeutic options, specific interventions are possible for each type of porphyria. For acute attacks, perfusion of heme and / or dextrose should be performed promptly. Skin manifestations are treated with phlebotomy and / or chloroquine in small doses. In some cases, bone marrow transplantation is recommended.

The prognosis depends on the type of porphyria.