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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
  • 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]
  • 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]
  • […] and signs Symptoms and signs (in order of incidence) Features May be misdiagnosed as Abdominal pain Recurrent, severe, poorly localized Another cause of acute abdomen Associated nausea and vomiting Endometriosis/pelvic inflammatory disease Absence of fever[ceaccp.oxfordjournals.org]
Limb Pain
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]
  • The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p 0.00).[ncbi.nlm.nih.gov]
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]
  • 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]
  • 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]
  • 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]
  • 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]
Constipation
  • 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 diarrhea.[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]
  • 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]
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]
  • Symptoms include: Redness or swelling, but usually no blisters Itching or burning sensation Long-term skin and nail changes Other symptoms may include: Abdominal pain Difficulty sleeping Irritability Nausea Headache Insensitivity to temperature Depressed[winchesterhospital.org]
  • 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 the abdomen Nausea[ucsfhealth.org]
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]
  • 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]
  • Possible signs and symptoms of acute porphyria include: severe abdominal pain, swelling of the abdomen (abdominal distention), pain in your chest, legs or back constipation or diarrhea, vomiting, insomnia, heartbeat you can feel (palpitations), high blood[compassionatecertificationcenters.com]
  • . • Porphyrias present acutely in attacks, consisting of severe abdominal pain , nausea , constipation, confusion, and seizure, and can be life-threatening. • The precipitating factors include drugs, steroid hormones, anesthetic agents, severe fasting[medlink.com]
Hypertension
  • 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]
  • 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]
  • Patients may have anxiety, confusion, autonomic instability (manifested as hypertension or tachycardia), emesis, and severe abdominal pain.[openanesthesia.org]
  • 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]
  • Other long-term complications include chronic arterial hypertension and subsequent renal impairment.[clinicaladvisor.com]
Tachycardia
  • 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]
  • 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]
  • Acute porphyria should be excluded in any case of unexplained severe abdominal pain, especially if associated with tachycardia and neurological symptoms.[ceaccp.oxfordjournals.org]
  • 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]
Jaundice
  • Jaundice may or may not be present. [ 53 ] A focused neurologic exam should be performed to identify motor and sensory deficits and peripheral neuropathy. In some but not all acute porphyrias, a skin rash may be seen.[emedicine.medscape.com]
  • Not all porphyrias are genetic, and patients with liver disease who develop porphyria as a result of liver dysfunction may exhibit other signs of their condition, such as jaundice .[house.wikia.com]
  • Hereditary coproporphyria (HCP) coproporphyrinogen oxidase (CPOX) Hepatic Autosomal dominant [12] Photosensitivity, neurologic symptoms, colic [12] 1 in 500,000 [17] Harderoporphyria coproporphyrinogen oxidase (CPOX) Erythropoietic Autosomal recessive [12] Jaundice[en.wikipedia.org]
Muscle Weakness
  • 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]
  • Besides having abdominal and nerve pain, the patient may suffer rapid heartbeat, mania, muscle cramps , muscle weakness, breathing problems, hallucinations, and coma.[rxlist.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]
  • 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]
  • Step 3: close monitoring for the development of new symptoms It is important that someone with this type of porphyria be monitored closely for any new symptoms that may develop, such as muscle weakness.[patient.info]
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]
  • pain or pain in the limbs.[ceaccp.oxfordjournals.org]
  • They suffered from back pain, difficulty urinating, psychosis, tachycardia and cramps.[house.wikia.com]
  • Protoporphyric liver disease may cause severe abdominal pain, especially in the right upper quadrant, and back pain.[bloodjournal.org]
Blister
  • 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]
  • 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.[mountsinai.org]
  • 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]
  • About porphyria cutanea tarda (PCT) Porphyria cutanea tarda (PCT) is a disorder characterized by thinning and blistering of the skin in sun-exposed areas.[publichealth.va.gov]
Photosensitivity
  • Porphyria is a condition of cutaneous photosensitivity. It is unclear if radiotherapy (RT) is safe in patients with porphyria.[ncbi.nlm.nih.gov]
  • 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]
  • 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]
  • Photosensitivity later. Extremely rare; fewer than 10 cases ever reported.[en.wikipedia.org]
  • Some types of acute porphyrias are also associated with photosensitivity. In contrast, patients with non-acute porphyria suffer photosensitivity but not acute attacks.[albertaporphyriasociety.weebly.com]
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]
  • […] 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 of exposed skin Hypertrichosis[arupconsult.com]
  • 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]
  • […] 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]
  • Skin thickening, focal hypopigmentation and hyperpigmentation, and hypertrichosis of the face and extremities are characteristic. Secondary infection and bone resorption may lead to disfigurement of the face and hands.[bloodjournal.org]
  • Sometimes, there is the presence of periorbital mottled hyperpigmentation and hypertrichosis, sclerodermoid changes, and ulceration. [25] Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are both risk factors for PCT.[emedicine.medscape.com]
Eruptions
  • 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]
  • 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]
  • 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]
  • Hönigsmann, H. " Polymorphous light eruption". Photodermtol Photoimmunol Photomed. vol. 24. 2007. pp. 155-61. Majoie, IML. " Polymorphous light eruption-like skin lesions in welder caused by ultraviolet C light".[clinicaladvisor.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]
  • urine Precipitating factors Drugs (inducers of heme synthesis) – anticoagulants, barbiturates, estrogen, ethanol, nicotine , sulfonamides Diminished caloric intake, fasting Infections Cutaneous Cutaneous symptoms – bullous lesions on sun-exposed skin[arupconsult.com]
  • Red urine is usually the first sign noticed in newborn babies with CEP. The intensity of the redness can vary from day to day. The teeth have a reddish discoloration.[britishskinfoundation.org.uk]
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]
  • They include abdominal pain which is severe and poorly localized (most common, 95% of patients experience), Urinary symptoms (Dysuria, urinary retention/incontinence or dark urine), peripheral neuropathy (patchy numbness and paresthesias), Proximal motor[house.wikia.com]
  • Other useful clues are a history of dark urine, especially reddish urine, tachycardia, and systemic arterial hypertension during attacks.[clinicaladvisor.com]
Seizure
  • 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]
  • Some benzodiazepines are safe and, when used in conjunction with newer anti-seizure medications such as gabapentin , offer a possible regimen for seizure control.[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]
  • […] porphyria often is "silent," meaning that the genetic change causes symptoms only in the presence of certain environmental triggers, such as alcohol consumption, inadequate diet and certain medications — especially sedatives related to barbiturates, anti-seizure[ucsfhealth.org]
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]
  • Neurologic exam showed extensive peripheral neuropathy. Urine showed high titers of porphobilinogen.[medbullets.com]
  • Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain , vomiting , peripheral neuropathy and mental disturbances.[house.wikia.com]
  • Jaundice may or may not be present. [ 53 ] A focused neurologic exam should be performed to identify motor and sensory deficits and peripheral neuropathy. In some but not all acute porphyrias, a skin rash may be seen.[emedicine.medscape.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]
  • 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]
  • 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[mountsinai.org]
Paresis
  • Acute crises may vary from a single attack that aborts quickly to those that go on to have frequent life-threatening attacks with multisystem involvement, respiratory, and bulbar paresis.[ceaccp.oxfordjournals.org]
  • Paresis 42-68 May occur early or late during a severe attack. Muscle weakness usually begins proximally rather than distally and more often in the upper rather than lower extremities.[clinicaladvisor.com]
  • Atypical attack of acute intermittent porphyria--paresis but no abdominal pain. J Intern Med . 2002 Sep. 252(3):265-70. [Medline] . [Full Text] . Bylesjo I, Forsgren L, Lithner F, Boman K.[emedicine.medscape.com]
  • 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]
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]
  • 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]
  • The most common symptom is intense abdominal pain, but some people also suffer muscular weakness, sensory disturbances or convulsions, and as a group the diseases are "devastating for patients" with attacks lasting for days and often requiring admission[fiercebiotech.com]
  • Medication can also be started to reduce any raised heart rate and raised blood pressure or to treat any convulsions that develop.[patient.info]
  • Anti-epileptic drugs may be given to control convulsion or seizures oral and intravenous glucose (sugar) to help you maintain a high energy intake haem arginate, a medication that is a form of haem, given to reduce the need for your body to produce its[britishlivertrust.org.uk]
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]
  • Much the same way as previously diagnosed patients with MCSS showed similarities with somatization disorders, the psychiatric manifestations of acute porphyria may also be confused with various psychiatric disorders (especially when combined with an isolated[clinicaladvisor.com]
Anxiety Disorder
  • disorder Confusion Somatization disorder Psychosis Acute psychosis Acute confusional state Pain and sensory disturbance Back, thigh, or extremity pain Chronic fatigue syndrome Sensory neuropathy over the trunk Fibromyalgia Chronic pain syndromes Seizures[ceaccp.oxfordjournals.org]
Delusion
  • Other psychiatric symptoms such as anxiety, restlessness, insomnia, depression, mania, hallucinations, delusions, confusion, catatonia, and psychosis may occur. [31] Seizures [ edit ] Seizures often accompany this disease.[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]
  • 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]
  • Hyponatremia Hyponatremia is a relatively common metabolic manifestation accompanying acute attack. It is usually mild and easily corrected.[signavitae.com]
  • […] tendon reflexes motor stiffness/paralysis the rest of physical exam is often normal Imaging Radiographs abdominal radiography indication often initially obtained due to nonspecific nature of symptoms findings normal Studies Labs serum studies may see hyponatremia[medbullets.com]
Coproporphyrin Increased
  • ) increase only with hepatopathy Protoporphyrin* X-EPP Free and zinc protoporphyrin Protoporphyrin ( 634 nm)** Urine porphyrins (especially coproporphyrin) increase only with hepatopathy Protoporphyrin* What other diseases, conditions, or complications[clinicaladvisor.com]

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.
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Last updated: 2017-08-09 18:05