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Porphyria

Porphyria is caused by enzyme abnormalities in the heme production pathway, the iron containing component of hemoglobin.

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Presentation

Acute intermittent porphyria presents with intermittent abdominal pain that resembles the clinical picture of acute abdomen. Since the origin of the pain is neurologic, there is no fever and leukocytosis. Between the attacks, the patient fully recovers from the pain. Vomiting and constipation are also very common.

Any part of the nervous system may be involved with autonomic and peripheral neuropathy [4] [5]. Peripheral neuropathy may be symmetric or asymmetric. In extreme cases, even quadriplegia or respiratory paralysis may occur. Seizures and psychiatric disorders may also occur in the patients of acute intermittent porphyria. These disorders include depression, anxiety and frank psychosis.

Hypertension and tachycardia are also seen in most of the patients.

In porphyria cutanea tarda, the patient presents with bullous eruptions on the skin when exposed to sunlight. When the eruptions heal, scarring may take place.

Fever
  • FHx May never have had symptoms Many precipitants — drugs, stress, infection, alcohol, menstruation, pregnancy, starvation, dehydration Abdo pain Vomiting Motor and sensory neuropathy Autonomic dysfunction Cranial nerve palsies Confusion Coma Seizures Fever[lifeinthefastlane.com]
  • Since the origin of the pain is neurologic, there is no fever and leukocytosis. Between the attacks, the patient fully recovers from the pain. Vomiting and constipation are also very common.[symptoma.com]
  • Tachycardia and hypertension, and less frequently fever, sweating, restlessness, and tremor are also observed. In up to 40% of patients, hypertension may become sustained between acute attacks. Neuropathy is a common feature of AIP.[diagnose-me.com]
  • During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations.[web.archive.org]
Abdominal Pain
  • Acute porphyria should be considered in any patient with abdominal pain in combination with neuropsychiatric features, motor neuropathy, or hyponatremia.[ncbi.nlm.nih.gov]
  • The disorder presents with severe neuropathic abdominal pain that can be accompanied by a wide range of gastrointestinal, psychiatric and neurological symptoms, making the diagnosis clarification very challenging.[ncbi.nlm.nih.gov]
  • Absence of abdominal pain does not exclude the possibility of porphyria, and attacks may be precipitated by antiretroviral and antituberculosis medication.[ncbi.nlm.nih.gov]
  • These attacks manifest as intense abdominal pain (very often associated with nausea, vomiting and constipation), and neurological and psychological symptoms.[orpha.net]
Vomiting
  • We report a case of a 27-year-old female patient who presented with acute abdominal pain, vomiting and marked hyponatremia, developed seizures and disorientation, and eventually required intensive care unit treatment to maintain breathing.[ncbi.nlm.nih.gov]
  • Acute attacks occur mainly in adults and comprise severe abdominal pain, nausea, vomiting, autonomic disturbance, central nervous system involvement and peripheral motor neuropathy.[ncbi.nlm.nih.gov]
  • Medical Marijuana for Porphyria Medical marijuana for porphyria is an excellent option to consider for people who struggle with nausea and vomiting as a result of the disorder.[compassionatecertificationcenters.com]
  • Additional symptoms can be loss of vision, sensitivity to light, aches and pains, acne, vomiting, diarrhea, abdominal pain, constipation, and abnormal fat metabolism.[diagnose-me.com]
  • Vomiting and constipation are also very common. Any part of the nervous system may be involved with autonomic and peripheral neuropathy. Peripheral neuropathy may be symmetric or asymmetric.[symptoma.com]
Constipation
  • CASE REPORT: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and[ncbi.nlm.nih.gov]
  • These attacks manifest as intense abdominal pain (very often associated with nausea, vomiting and constipation), and neurological and psychological symptoms.[orpha.net]
  • Additional symptoms can be loss of vision, sensitivity to light, aches and pains, acne, vomiting, diarrhea, abdominal pain, constipation, and abnormal fat metabolism.[diagnose-me.com]
Nausea
  • Acute attacks occur mainly in adults and comprise severe abdominal pain, nausea, vomiting, autonomic disturbance, central nervous system involvement and peripheral motor neuropathy.[ncbi.nlm.nih.gov]
  • These attacks manifest as intense abdominal pain (very often associated with nausea, vomiting and constipation), and neurological and psychological symptoms.[orpha.net]
  • Medical Marijuana for Porphyria Medical marijuana for porphyria is an excellent option to consider for people who struggle with nausea and vomiting as a result of the disorder.[compassionatecertificationcenters.com]
Severe Abdominal Pain
  • Acute attacks occur mainly in adults and comprise severe abdominal pain, nausea, vomiting, autonomic disturbance, central nervous system involvement and peripheral motor neuropathy.[ncbi.nlm.nih.gov]
  • Patients may have anxiety, confusion, autonomic instability (manifested as hypertension or tachycardia), emesis, and severe abdominal pain.[openanesthesia.org]
  • They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes.[nlm.nih.gov]
  • Acute attacks are typically characterized by severe abdominal pain. However, sometimes the pain may begin in the chest, back, or thighs. Patients also experience nausea, vomiting, constipation, and increased heart rate and blood pressure.[sema4genomics.com]
  • Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension.[doi.org]
Hypertension
  • On admission, she was noted to have hyponatremia, tachycardia, and hypertension. Then, she had episodes of seizure and confusion.[ncbi.nlm.nih.gov]
  • Primary survey revealed: hypertension, tachycardia, abdominal pain, severe agitation, and confusion with an encephalopathy consistent with acute delirium, a Glasgow Coma Scale score of 13, and head-to-toe "burn-like" abrasions.[ncbi.nlm.nih.gov]
  • Chronic hypertension or chronic kidney disease can develop in a small minority.[patient.info]
  • Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension.[doi.org]
Tachycardia
  • On admission, she was noted to have hyponatremia, tachycardia, and hypertension. Then, she had episodes of seizure and confusion.[ncbi.nlm.nih.gov]
  • Primary survey revealed: hypertension, tachycardia, abdominal pain, severe agitation, and confusion with an encephalopathy consistent with acute delirium, a Glasgow Coma Scale score of 13, and head-to-toe "burn-like" abrasions.[ncbi.nlm.nih.gov]
  • Patients may have anxiety, confusion, autonomic instability (manifested as hypertension or tachycardia), emesis, and severe abdominal pain.[openanesthesia.org]
  • You may have a fast heart rate (tachycardia). The provider may find that your deep tendon reflexes (knee jerks or others) do not work properly. Blood and urine tests may reveal kidney problems or other problems.[nlm.nih.gov]
  • Hypertension and tachycardia are also seen in most of the patients. In porphyria cutanea tarda, the patient presents with bullous eruptions on the skin when exposed to sunlight. When the eruptions heal, scarring may take place.[symptoma.com]
Jaundice
  • ., and Thomson S. ( 1948 ) A case of chronic porphyria associated with recurrent jaundice. Quarterly Journal of Medicine 51: 123 - 137. Google Scholar Green V. ( 2005 ) The Madness of Kings. Stroud : Sutton Publishing Ltd.[doi.org]
Recurrent Jaundice
  • ., and Thomson S. ( 1948 ) A case of chronic porphyria associated with recurrent jaundice. Quarterly Journal of Medicine 51: 123 - 137. Google Scholar Green V. ( 2005 ) The Madness of Kings. Stroud : Sutton Publishing Ltd.[doi.org]
Muscle Weakness
  • Besides having abdominal and nerve pain, the patient may suffer rapid heartbeat, mania, muscle cramps, muscle weakness, breathing problems, hallucinations, and coma.[rxlist.com]
  • Severe attacks of acute porphyria can cause lasting nerve damage and muscle weakness that can take months to resolve. Treatment of cutaneous porphyria depends on the specific type and the severity of the symptoms.[webmd.com]
  • Acute porphyria can also affect the nervous system so that numbness and muscle weakness is felt, even in the chest wall, which can in turn lead to breathing difficulties.[orphan-europe.com]
  • Other symptoms include: Muscle pain Muscle weakness or paralysis Numbness or tingling Pain in the arms or legs Pain in the back Personality changes Attacks can sometimes be life-threatening, producing: Low blood pressure Severe electrolyte imbalances[nlm.nih.gov]
  • Muscle weakness often begins proximally in the legs but may involve the arms or the distal extremities; involvement may be symmetric, asymmetric, or focal, and may occasionally be associated with a decrease or loss of tendon reflexes.[diagnose-me.com]
Back Pain
  • Symptoms may include vomiting, abdominal or back pain, weakness in arms or legs, and mental symptoms. Laboratory tests are done on urine samples taken during the attack.[msdmanuals.com]
  • The imbalance can contribute to some of these symptoms: Abdominal pain , often severe Chest pain Increased heart rate and blood pressure Limb and back pain Muscle weakness Tingling Loss of sensation Cramping Vomiting and constipation Personality changes[webmd.com]
Blister
  • Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.[nlm.nih.gov]
  • These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias.[ncbi.nlm.nih.gov]
  • Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific[ncbi.nlm.nih.gov]
  • Milder skin disease, such as that seen in VP and HCP, consists of increased skin fragility in exposed areas with a tendency to form blisters and erosions, particularly after minor knocks or scrapes.[ippn.info]
Photosensitivity
  • BACKGROUND: Porphyria is a condition of cutaneous photosensitivity. It is unclear if radiotherapy (RT) is safe in patients with porphyria.[ncbi.nlm.nih.gov]
  • Erythropoietic protoporphyria is characterized by childhood onset of acute cutaneous photosensitivity to direct sunlight. Childhood epilepsy is an exception to the postpuberty onset rule for initial porphyric attacks in the hepatic forms.[web.archive.org]
  • Permanent residual deficits are not uncommon; residual defects during latent periods include polyneuropathy in both conditions, ataxia and retinitis pigmentosa with night blindness in Refsum disease, [7] and photosensitive dermatitis in porphyrias (rare[emedicine.medscape.com]
  • Uncommon Photosensitivity AD, autosomal dominant; AR, autosomal recessive; PCT, porphyria cutanea tarda Cutaneous Porphyrias Epidemiology and Clinical Features of Cutaneous Porphyrias Porphyria Cutanea Tarda (PCT) Congenital Erythropoietic Porphyria[arupconsult.com]
  • Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral[ncbi.nlm.nih.gov]
Hypertrichosis
  • More severe skin disease is sometimes seen in PCT, with prominent lessons, darkening of exposed skin such as the face, and hypertrichosis : abnormal hair growth on the face, particularly the cheeks.[ippn.info]
  • […] reported) autosomal recessive form of porphyria cutanea tarda, with markedly deficient activity of uroporphyrinogen decarboxylase (UROD); manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis[pathologyoutlines.com]
  • Congenital erythropoietic porphyria (CEP) Diaper - Pink-stained or dark-stained urine Hair - Hypertrichosis, alopecia Eyes - Keratoconjunctivitis, vision loss Growth - Shortness of stature Abdomen - Splenomegaly, upper right quadrant tenderness, positive[web.archive.org]
  • More severe skin disease is sometimes seen in PCT, with prominent lesions, darkening of exposed skin such as the face, and hypertrichosis: abnormal hair growth on the face, particularly the cheeks.[en.wikipedia.org]
Hyperpigmentation
  • Symptoms are: blisters on areas of the skin exposed to the sun such as the face, arms, and hands followed by crusting and scarring; hyperpigmentation; increased hair growth on areas exposed to the sun; and liver damage.[publichealth.va.gov]
  • Fragile, poorly healing skin with pruritus, hyperpigmentation and hypertrichosis are other features. Forehead, cheeks, ears and backs of hands are most commonly affected but all skin exposed to the sun can be affected.[patient.info]
  • […] take weeks to heal Symptoms differ in erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLPP) – patients develop seasonal, lifelong acute photosensitivity of sun-exposed skin Phototoxic reactions take place within minutes of sun exposure Hyperpigmentation[arupconsult.com]
Eruptions
  • After she received 100 mg of methotrexate, drug eruptions were observed starting on day 3 and grew progressively worse. Erythema and mucosal erosion spread throughout her body, whereupon she was administered prednisolone.[ncbi.nlm.nih.gov]
  • In porphyria cutanea tarda, the patient presents with bullous eruptions on the skin when exposed to sunlight. When the eruptions heal, scarring may take place.[symptoma.com]
  • Sunscreens are not helpful for preventing skin eruptions. Sometimes, betacarotene (bay-ta-KAR-o-teen) is given to help with light sensitivity.[humanillnesses.com]
  • […] see above Differential Diagnosis Neurological Depression Seizure disorder Abdominal Acute surgical abdomen Lead poisoning Cutaneous symptoms Pemphigoid Pemphigus Pseudoporphyria Stevens-Johnson syndrome/toxic epidermal necrolysis Polymorphous light eruption[arupconsult.com]
Delusion
  • Other psychiatric symptoms such as anxiety, restlessness, insomnia, depression, mania, hallucinations, delusions, confusion, catatonia, and psychosis may occur. Seizures often accompany this disease.[en.wikipedia.org]
Psychiatric Manifestation
  • Many psychiatric manifestations are also seen in patients with acute porphyria. Hyponatremia and hypomagnesemia are common electrolyte abnormalities seen in acute attack. Both the electrolyte changes are risk factors for development of seizures.[medlink.com]
Red Urine
  • Symptoms may include muscle pain or paralysis, seizures, disorientation, hallucination, bloody (red) urine, hypertension and gastrointestinal problems such as vomiting, abdominal pain and constipation.[betterhealth.vic.gov.au]
  • Red urine that fluoresces in nappies can allow an easy bedside diagnosis. [ 3 ] There is severe photosensitivity. Pruritus and erythema followed by vesicle and bullous formation occur on exposure to sunlight.[patient.info]
  • She wrote in her letters of having terrible pains in the abdomen which wandered around her body, being lame, having blisters all over her face...and of having dark red urine.[web.archive.org]
Dark Urine
  • Signs and Symptoms Diagnosis Treatment Symptoms vary depending on the type of porphyria, but some of the more common include: Dark urine Skin sensitivity, including blistering, of areas exposed to the light, such as the face and back of hands Pain in[ucsfhealth.org]
  • urine AR, autosomal recessive; XL, X-linked Pathophysiology Heterogenous group of inherited or acquired disorders of heme biosynthesis Partial deficiency of 1 of 7 enzymes in the pathway causes the clinical features of porphyria Defined by accumulation[arupconsult.com]
Seizure
  • Then, she had episodes of seizure and confusion. Gabapentin was prescribed for the control of seizure and pain before the diagnosis of acute intermittent porphyria was confirmed. Seizure did not occur after gabapentin.[ncbi.nlm.nih.gov]
  • We report a case of a 27-year-old female patient who presented with acute abdominal pain, vomiting and marked hyponatremia, developed seizures and disorientation, and eventually required intensive care unit treatment to maintain breathing.[ncbi.nlm.nih.gov]
  • While being evaluated, she had a generalized tonic-tonic seizure. She has no family or personal history of seizures. Her serum studies ruled out any metabolic abnormalities that may cause seizures.[medbullets.com]
  • Seizures often accompany this disease. Most seizure medications exacerbate this condition. Treatment can be problematic: barbiturates especially must be avoided.[en.wikipedia.org]
  • Both the electrolyte changes are risk factors for development of seizures. Acute inherited porphyria should always be considered in patients with acute polyneuropathy or encephalopathy.[medlink.com]
Convulsions
  • Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion ( p 0.00). Genetic testing provided a precise diagnosis of the patients.[ncbi.nlm.nih.gov]
  • Complication management Treatment of convulsions: the most commonly used anticonvulsants are porphyrogenic. Gabapentin and probably vigabatrin can be used to treat convulsions.[patient.info]
  • Confusion, convulsions, and muscular weakness, due to neurologic impairment, may lead to paralysis. An acute attack usually lasts for days. Recovery from severe paralysis is generally slow.[sema4genomics.com]
Personality Change
  • Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.[medlineplus.gov]
  • Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently.[seattlecca.org]
  • Those with acute forms of porphyria develop numbness, tingling, paralysis, cramping, vomiting, constipation, personality changes or mental disorders, and/or pain in the abdomen, chest, limbs, or back.[medicinenet.com]
  • Other symptoms include: Muscle pain Muscle weakness or paralysis Numbness or tingling Pain in the arms or legs Pain in the back Personality changes Attacks can sometimes be life-threatening, producing: Low blood pressure Severe electrolyte imbalances[nlm.nih.gov]
  • The imbalance can contribute to some of these symptoms: Abdominal pain , often severe Chest pain Increased heart rate and blood pressure Limb and back pain Muscle weakness Tingling Loss of sensation Cramping Vomiting and constipation Personality changes[webmd.com]
Peripheral Neuropathy
  • Any part of the nervous system may be involved with autonomic and peripheral neuropathy. Peripheral neuropathy may be symmetric or asymmetric. In extreme cases, even quadriplegia or respiratory paralysis may occur.[symptoma.com]
  • Part 1: peripheral neuropathies, Neurological Sciences, 10.1007/s10072-019-03778-7, (2019). Maureen B. Poh-Fitzpatrick, Photocutaneous Porphyrias, Current Dermatology Reports, 10.1007/s13671-019-0253-1, (2019).[doi.org]
  • Their claims about peripheral neuropathy, cataracts, vocal hoarseness and abdominal pains are re-evaluated; and it is also demonstrated that evidence of discoloured urine is exceedingly weak.[doi.org]
  • Neurologic exam showed extensive peripheral neuropathy. Urine showed high titers of porphobilinogen.[medbullets.com]
Paresis
  • Intravenous glucose alone is appropriate only for mild attacks (mild pain, no paresis or hyponatremia) or until hemin is available. Precipitating factors should be eliminated, and appropriate supportive and symptomatic therapy should be initiated.[ncbi.nlm.nih.gov]
  • Patients also may develop paresis or acute motor neuropathy, and may experience changes in mental status, such as behavioral changes, agitation, or hallucinations.[hematologyandoncology.net]
  • […] the addition of hematin, heme arginate, or even tin mesoporphyrin, as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe, progressing to bulbar paresis[en.wikipedia.org]

Workup

The diagnosis of acute intermittent porphyria is made by the use of the following investigations.

  • Serum electrolytes: The patients of acute intermittent porphyrias often have hyponatremia which is detected by examination of the serum electrolytes.
  • Urine examination: The freshly void urine of the patients of acute intermittent porphyria is normal in color. However, when it is allowed to stand with exposure to light and air, it may turn black in color. The diagnosis is confirmed by increased amount of porphobilinogen in the urine during an attack.

The diagnosis of other types of porphyrias can also be made by similar demonstration of porphyrins in the urine or feces [6] [7]. Congenital porphyrias may be diagnosed prenatally by specialized tests [8].

Hyponatremia
  • Severe hyponatremia, urine that develops orange colour on exposure to light and gastrointestinal symptom combination with neurologic symptoms are three valuable clues that may lead to the right diagnosis faster.[ncbi.nlm.nih.gov]
  • Acute porphyria should be considered in any patient with abdominal pain in combination with neuropsychiatric features, motor neuropathy, or hyponatremia.[ncbi.nlm.nih.gov]
  • On admission, she was noted to have hyponatremia, tachycardia, and hypertension. Then, she had episodes of seizure and confusion.[ncbi.nlm.nih.gov]
  • Hyponatremia Hyponatremia is a relatively common metabolic manifestation accompanying acute attack. It is usually mild and easily corrected.[signavitae.com]
  • Intravenous glucose alone is appropriate only for mild attacks (mild pain, no paresis or hyponatremia) or until hemin is available. Precipitating factors should be eliminated, and appropriate supportive and symptomatic therapy should be initiated.[ncbi.nlm.nih.gov]
Protoporphyrin Increased
  • Zn protoporphyrin increases in many conditions other than porphyrias, including iron deficiency, lead poisoning and almost any type of disorder that affects erythrocytes.[web.archive.org]
  • increased or decreased Protoporphyrin Acknowledgments We thank Dr N Dani (general practitioner), Dr Z Yahya, and Ms Leah Mesirow for help in preparing the manuscript and figures.[ncbi.nlm.nih.gov]

Treatment

The treatment of acute intermittent porphyria is mainly supportive and consists of the following principles.

  • If the patient is hyponatremic, the amount of sodium in the blood should be corrected.
  • Analgesics are given for pain. Because of the severity of the pain, narcotics may be given. Celiac plexus injection may be required in cases with extremely unbearable pain [9].
  • Intravenous glucose is given in order to maintain a high level of carbohydrates in the patient.
  • The symptoms of nausea and vomiting are managed by giving ondansetron [10].
  • Intravenous infusion of hemin is given once or twice a day according to a calculate dose of 4 mg/kg body weight. It appears to be of some benefit in these patients but may cause the side effects of phlebitis and coagulopathy.

Prognosis

Porphyrias are associated with lifelong morbidity. If porphyrias are not diagnosed early and managed properly, they are fatal [2]. There is also a high risk for the development of hepatocellular carcinoma in the patients with acute hepatic porphyrias [3].

Etiology

Porphyrias are primarily inherited metabolic disorders. All forms of porphyrias except congenital erythropoietic porphyria are autosomal-dominant disorders, the latter being autosomal-recessive.

Rarely, porphyrias may be acquired. A fungicide called hexachlobenzene is documented to have caused porphyrias in Turkey in the fifth decade of the twentieth century [1]. Alcohol is known to be a precipitating factor for porphyria cutanea tarda.

Epidemiology

The peak incidence of acute intermittent porphyria is seen in the people around 30 years of age. The prevalence ranges from one case per 100,000 population in the United States to as high as 60 to 100 cases in northern Sweden. Women are affected much more commonly as compared to males.

Sex distribution
Age distribution

Pathophysiology

Porphyrias result from the excess production of porphyrins - the intermediate products in the biosynthesis of heme. This occurs when there is a deficiency of function of one or more enzymes involved in the normal biosynthesis of heme.

Acute intermittent porphyria is caused by the deficiency of the function of an enzyme called porphobilinogen deaminase. This leads to an increased excretion of aminolevulinic acid and proporphobilinogen in the urine.

Prevention

Inherited types of porphyrias can not be prevented. However, the precipitating factors of the attacks can be removed. These include certain drugs and alcohol. Alcohol intake is to be strongly restricted in the patients of porphyria cutanea tarda. Screening of other family members of the patients should be done with measurement of erythrocyte porphobilinogen, amino-levulinic acid (ALA) synthetase and other common porphyrins. The patients with hepatic porphyrias should be screened for signs of hepatocellular carcinoma.

Summary

Porphyrias are a group of usually inborn errors of metabolism. They are characterized by abnormalities of the enzymes that are involved in the biosynthesis of heme - the iron containing component of hemoglobin. Deficiency of the function of these enzymes results in the overproduction and accumulation of intermediate compounds in the biosynthetic pathway of heme formation. These intermediate compounds are named porphyrins.

Porphyrias can be classified according to several criteria. In porphyrias, excess production of porphyrins can occur either in the liver or in the bone marrow. The former are known as hepatic porphyrias whereas the latter are known as erythropoietic porphyrias. Acute intermittent porphyrias, hereditary porphyrias, variegate porphyrias and porphyria cutanea tarda are all hepatic porphyrias whereas congenital porphyrias and erythropoietic protoporphyria are erythropoietic porphyrias.

Porphyrias can also be classified according to their clinical presentations. The porphyrias that have an acute clinical picture include acute intermittent porphyria and variegate porphyria. On the other hand, porphyria cutanea tarda and erythropoietic protoporphyria have a subacute clinical picture. Acute intermittent porphyria is the most important type of porphyrias.

Patient Information

Porphyrias are a group of diseases in which the body is unable to normally form a component of red blood cells’ pigment because of a defect in any level of the synthetic pathway. Because of this, there is an accumulation of the intermediary compounds of the pathway.

These compounds accumulate in amounts that are toxic to the body and cause a variety of symptoms. For better quality of life, the disease should be diagnosed and treated early.

References

Article

  1. Gocmen A, Peters HA, Cripps DJ, Bryan GT, Morris CR. Hexachlorobenzene episode in Turkey. Biomedical and environmental sciences : BES. Mar 1989;2(1):36-43.
  2. Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine. Jan 1992;71(1):1-13.
  3. Sardh E, Wahlin S, Bjornstedt M, Harper P, Andersson DE. High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria. Journal of inherited metabolic disease. Nov 2013;36(6):1063-1071.
  4. Kuo HC, Huang CC, Chu CC, et al. Neurological complications of acute intermittent porphyria. European neurology. 2011;66(5):247-252.
  5. Saxena HC, Malhotra H, Mathur SN. Neurological complications in intermittent acute porphyria. The Journal of the Association of Physicians of India. Oct 1988;36(10):585-588.
  6. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of internal medicine. Mar 15 2005;142(6):439-450.
  7. Lin DL, He LF, Li YQ. Rapid and simultaneous determination of coproporphyrin and protoporphyrin in feces by derivative matrix isopotential synchronous fluorescence spectrometry. Clinical chemistry. Oct 2004;50(10):1797-1803.
  8. Daikha-Dahmane F, Dommergues M, Narcy F, et al. Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. Mar-Apr 2001;4(2):180-184.
  9. Ferrari AP, Ardengh JC. Endosonography-guided celiac plexus neurolysis in the treatment of pain secondary to acute intermittent porphyria. Endoscopy. Apr 2002;34(4):341-342.
  10. De Wet M, Jooste R, Coccia-Portugal MA, Falkson G. Ondansetron in a patient with porphyria. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. Dec 1992;82(6):480.

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Last updated: 2017-08-09 18:05