Porphyrin disease

Porphyrin disease (synonym of gematoporfiria) - a hereditary disease associated with the violation of the normal synthesis of heme (ink part of the haemoglobin molecule) and accompanied by the accumulation in the tissues and urine and faeces of large quantities of porphyrins (see).
Porphyrin disease manifests itself as an emerging from childhood chronic disease with increased skin sensitivity to light (pigmentation, ulceration), haemolytic anaemia, porphyrinuriaor as "acute intermittent porphyria", forthcoming in the first decade of life. Porphyrin disease is characterized by attacks of acute abdominal pain with vomiting, constipation or diarrhea, fever and often regarded as acute appendicitis, pancreatitis, cholecystitis.
Onset or exacerbation often provoked by taking barbiturates. In parallel abdominal symptoms develop lesions of the nervous system: polyneuritis, paralysis, and sometimes paralysis and mental disorders. Skin pigmented, but not ulcerated; urine is red, light to dark.
Diagnostics is possible on the basis of the clinical picture. Diagnosis is confirmed by a special biochemical study of porphyrins blood and urine. If you suspect porphyrin disease, the patient should be referred for a consultation with a therapist-hematologist.
Treatment. The exception of barbiturates. The appointment of a special diet, rich in carbohydrates, denila, corticosteroid hormones.

Porphyrin disease (synonym acute intermittent porphyria) first described the bill (N. Gunther). Is rare. Since the use of barbiturates it was registered more frequently, as barbiturates manifested latent forms of the disease. Women suffer much more than men. The patients ' age of 20-40 years.
Family character porphyrin disease proven set of observations; inheritance, obviously, is the dominant type. For manifestations of the disease are important external factors (use of sleeping pills, sulfonamides, or solar ultraviolet, x-rays and other). The pathogenesis of porphyrin disease to date is not fully disclosed. Violation of porphyrin metabolism leads to the formation of non-physiological connections perelomova series - insoluble in ether of uroporphyrin or its predecessors (porphobilinogen, Lamborghinis, d is aminolevulinova acid).
Histologically diagnosed picture parenchymatous polinevrita, axona have areas of fragmentation in peripheral nerves and roots - centers swelling, vacuolization and breakdown of myelin.
Porphyrin disease usually begins pristupoobrazna. The attacks last from several hours to several weeks.
The attack is preceded by irritability, emotional lability, migraine, nevralgia, peripheral nerves, constipation, abdominal tenderness, sometimes amaurosis, etc.
Porphyrin the disease manifests abdominal symptoms of colic, constipation, vomiting (abdominal porphyria), nervous system disorders (neurological form), psyche (porphyrin psychosis), muscles (myopathy porphyria), vascular function.
These forms disorders are expressed in different degrees, combined in various proportions and are accompanied by fever and leukocytosis.
Abdominal phenomenon sometimes become so pronounced that may be suspected ileus. To reject this diagnosis allow no signs of peritoneal irritation and other local symptoms of acute intestinal obstruction. Radiographically when porphyrin disease are observed phenomena spasm of the gastrointestinal tract, bloating blind and transverse colon. Severe muscle pain, twitching and atrophy of muscle groups unfavorable prognostic sign. Found in the urine creatine.
Often, increased blood pressure and quickens the pulse. ECG - lengthening of the interval Q - T-wave flattening the So Angiospazmam cause pain. Hematemesis, intestinal bleeding when porphyrin disease due vascular disorders. From complications should be noted interstitial nephritis, necrosis of pancreatic cancer, hemolysis.
The diagnosis is based on the clinical picture and the emergence of black or dark-red urine. However, the color of urine may be normal; sometimes it gets dark when standing.
Porphyrin disease should be considered proven detection of porphyrins (uroporphyrin, porphobilinogen, Lamborghinis, d is aminolevulinova acid) in the urine (see Porphyrinuria). The differential diagnosis is acute diseases of abdominal organs, neuroses, and other neurological and psychiatric diseases.
Forecast serious. Severe forms of porphyrin disease is usually fatal. In the presence of nerve symptoms mortality reaches 50-60% (Gunther).
Specific treatment is not. Sometimes remission occurs after application of ACTH (40-80 IU per day) and glucocorticoids (cortisone 200-300 or prednisolone up to 50 mg per day). Hormonal therapy should continue short courses (5-7-10 days). It is recommended to assign lactoflavin, Pantothenic acid, calcium gluconate, drugs rauwolfia, testosterone. Removal of porphyrins from the body assign drug unithiol.
In the latent form or in remission conduct the following preventive measures: it is prohibited the use of barbiturates, mercury and sulfa drugs, cocaine, amidopirina, solar and x-ray exposure, you need to avoid colds, nervous and physical stresses.
Changes to the nervous system porphyrin disease. Symptoms diseases of the nervous system usually occur when the so-called neuro-abdominal form.
In neurological pattern of disease plays a leading role syndrome polyneuritis. After one or more bouts of abdominal pain appear motor disorders. Beginning with hands or feet, paresis quickly grasp all the limbs. Most often affects extensor hands, feet, fingers and toes. Less paralysis stronger expressed in the proximal parts of the legs. Paralysis may develop gradually (within 1-2 weeks) or acute. Tendon reflexes decline or disappear. Atrophy of the muscles of the limbs are developing rapidly and are often significantly expressed. Patients suffer paresthesia and pain in the limbs. The objective of sensitivity disorders are less common. Pain and deep sensitivity violated in the distal
limbs, but these violations can be extended to the torso. Sometimes amazed bulbar nerves with dysphagia, dysphonia and breathing disorders, from which patients often die. The cerebrospinal fluid is normal, rare protein cellular dissociation.
Most of the patients at the onset of porphyrin disease complains of insomnia, depression, fatigue, seizures, excitation. Rarely are the symptoms of acute encephalitis.
When expressed signs of diseases of the nervous system, the prognosis is poor; death occurs from respiratory paralysis. In favourable cases, pain and paresthesia gradually disappear, force of muscles is restored. If there is no residual paralysis and atrophy, all symptoms may disappear completely. Comes remission, which lasts from several weeks to several years.
Treatment and prevention of neural events coincide with the General treatment of the disease. In some patients, there comes a rapid improvement polinevrita in the treatment of cortisone (corticosteroids).