porphyria(redirected from Congenital sideroblastic anaemia)
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Two general types are known: the erythropoietic porphyrias, which are concerned with the formation of erythrocytes in the bone marrow; and the hepatic porphyrias, which are responsible for liver dysfunction. Manifestations of porphyria include gastrointestinal, neurologic, and psychologic symptoms, cutaneous photosensitivity, pigmentation of the face (and later of the bones), and anemia with enlargement of the spleen. Large amounts of porphyrins are excreted in the urine and feces.
Treatment of this condition has been primarily symptomatic and varies in its effectiveness. Emphasis is on prevention of attacks by avoiding fasting and drugs that precipitate the symptoms. Photosensitivity may be controlled by avoiding exposure to light. Removal of the spleen is useful in some cases of the erythropoietic type of porphyria. Drug therapy includes the use of phenothiazines, chlorpromazine and promazine in particular. These drugs allay pain and nervousness and apparently allow a period of remission from symptoms. Meperidine hydrochloride (Demerol) may be given for pain and hydroxypheme (Hemetin) is given intravenously to compensate for genetic impairment of heme synthesis.
Patients with porphyria must not be given barbiturates, sulfonamides, alcohol, or chloroquine as these chemicals may precipitate or intensify attacks. It is recommended that persons with this disease carry with them at all times identification saying that they have porphyria so that in an emergency they will not be given medication that could precipitate an attack or even death.
porphyria/por·phy·ria/ (por-fēr´e-ah) any of a group of disturbances of porphyrin metabolism characterized by increase in formation and excretion of porphyrins or their precursors.
porphyriaMetabolic disease Any of a family of inborn errors of porphyrin metabolism–most commonly acute intermittent porphyria Clinical Confusion, nausea, acute abdominal pain, extreme sensitivity to sunlight resulting in skin lesions; it is acutely exacerbated by alcohol and medications Lab ↑ urinary excretion and circulating levels of porphyrins or precursors–eg, porphobilinogen, δ-aminolevulinic acid. See Acute intermittent porphyria, Congenital erythropoietic porphyria, Erythropoietic porphyria, Porphyria cutanea tarda, Variegate porphyria.
porphyriaAny of several inherited disorders in which substances called porphyrins accumulate in the body because of a deficiency of certain ENZYMES. Porphyrins are components formed in the course of the synthesis of HAEMOGLOBIN. The effects are numerous. There may be extreme sensitivity to sunlight, sweating, rapid heart rate, abdominal pain, vomiting, constipation, paralysis and other nervous system disturbances including psychotic disorders. In some cases the effects are mainly on the skin and include blistering, scarring and baldness, especially on exposure to light. Treatment is difficult and varies with the different types. Avoidance of sunlight is often important.
porphyriainherited disorder of porphyrin metabolism
acute intermittent porphyria autosomal-dominant disease affecting women more than men, precipitated by alcohol, barbiturate drugs or oral contraceptives; characterized by acute abdominal pain, vomiting and constipation (90% of cases), motor neuropathy (70%), hypertension and tachycardia (70%), psychiatric disorders, e.g. depression, anxiety and psychoses (50%); urine develops a dark red or brown discoloration on standing (porphyrinuria)
Patient discussion about porphyria
Q. I am 21 years old and have porphyira. I am in a crisis now. Its ruining my life. Please help!
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