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

  Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. The attacks usually last for days to weeks. [play.google.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]

  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]

  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]

• Limb Pain

  One form, acute intermittent porphyria, causes attacks of acute abdominal or limb pain, weakness due to peripheral neuropathy, epileptic seizures, confusion, and increased pigmentation of the skin with abnormal sensitivity to sunlight. Attacks… [britannica.com]

  Symptoms associated with hepatic disease include: limb pain neuropathy hypertension tachycardia (fast heartbeat) electrolyte imbalance Symptoms associated with erythropoietic disease include: extreme skin sensitivity to light anemia (when the body does [healthline.com]

  but can be associated with back pain or pain in the limbs. [ceaccp.oxfordjournals.org]

  Limb pain is common. [emedicine.medscape.com]

  The most commonly reported debilitating symptoms are diffuse severe pain affecting the abdomen, back, or limbs; other common attack signs and symptoms include nausea and vomiting, constipation, hypertension, motor weakness, insomnia, or anxiety [1–3, [ncbi.nlm.nih.gov]

• Acutely Ill Patient

  Therefore, measuring PBG and creatinine concentrations in a random urine, obtained while the woman is having abdominal pain, is the most important test for diagnosing acute porphyria, especially in an acutely ill patient. [rarediseasesnetwork.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]

  […] attacks, abdominal pain, constipation 9 118 280 732 Arg173Trp 6 F28 Cyclical attacks, abdominal pain, confusion, convulsion 7 112 281 476 Arg173Trp 7 F22 Cyclical attacks, abdominal pain, constipation, respiratory paralysis 11 130     Trp283Term 8 F23 [hindawi.com]

  These attacks manifest as intense abdominal pain (very often associated with nausea, vomiting and constipation), and neurological and psychological symptoms. [orpha.net]

• Vomiting

  It could vary from limb, back, or chest pain, nausea, vomiting, confusion, anxiety, seizures, weak limbs, constipation, diarrhea, or dark or reddish urine. [porphyria.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]

  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. [malacards.org]

  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

  […] attacks, abdominal pain, constipation 9 118 280 732 Arg173Trp 6 F28 Cyclical attacks, abdominal pain, confusion, convulsion 7 112 281 476 Arg173Trp 7 F22 Cyclical attacks, abdominal pain, constipation, respiratory paralysis 11 130     Trp283Term 8 F23 [hindawi.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. [malacards.org]

  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]

  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]

• Nausea

  It could vary from limb, back, or chest pain, nausea, vomiting, confusion, anxiety, seizures, weak limbs, constipation, diarrhea, or dark or reddish urine. [porphyria.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]

  These attacks manifest as intense abdominal pain (very often associated with nausea, vomiting and constipation), and neurological and psychological symptoms. [orpha.net]

• 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]

  The second most common form, acute intermittent porphyria (AIP), is characterized by life-threatening attacks of severe abdominal pain, constipation, tachycardia, and neuropsychiatric abnormalities. [amboss.com]

  Symptomatically, acute porphyrias primarily cause brain and nerve involvement, often with severe abdominal pain, vomiting, neuropathy, and mental disturbances. [dbpedia.org]

  Attacks of acute porphyria may unfold or progress with the following symptoms: anxiety, restlessness and insomnia severe abdominal pain pain in your arms, legs or back vomiting and constipation high blood pressure (hypertension) muscle pain, tingling, [britishlivertrust.org.uk]

• Jaundice

  Google Scholar Gray CH, Rimington C., 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. [doi.org]

  A few months later, there was a new crisis so it was decided to change fosamprenavir/ ritonavir for unboosted atazanavir that was poorly tolerated with the onset of jaundice and mild renal failure. [archivesofmedicine.com]

  In patients with acute alcoholic hepatitis, clinical manifestations include fever, jaundice, hepatomegaly, and possible hepatic decompensation with hepatic encephalopathy, variceal bleeding, and ascites accumulation. [en.wikipedia.org]

  30011147 2017 45 Porencephaly in a fennec fox (Vulpes zerda). 38 Yamazaki M...Une Y 27523321 2016 46 Evaluation of long-term neurodevelopment in twin-twin transfusion syndrome after laser therapy. 38 Sananes N...Favre R 27764900 2016 47 Severe Hemolytic Jaundice [malacards.org]

  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]

• Hypertension

  Chronic hypertension or chronic kidney disease can develop in a small minority. [patient.info]

  On admission, she was noted to have hyponatremia, tachycardia, and hypertension. Then, she had episodes of seizure and confusion. [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]

• Tachycardia

  On admission, she was noted to have hyponatremia, tachycardia, and hypertension. Then, she had episodes of seizure and confusion. [ncbi.nlm.nih.gov]

  The second most common form, acute intermittent porphyria (AIP), is characterized by life-threatening attacks of severe abdominal pain, constipation, tachycardia, and neuropsychiatric abnormalities. [amboss.com]

  Tachycardia and hypertension can be treated with a β-blocker, but this should be done cautiously if there is evidence of hypovolemia. [cghjournal.org]

  Patient   Clinical features Total length of hospital stay (days) Serum Na (mEq/L) Plasma osmotic pressure Urine osmotic pressure Mutation in PBGD gene 1 F21 Cyclical attacks, abdominal pain, constipation, confusion, convulsion, tachycardia 13 107 245 [hindawi.com]

• 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]

  Acute porphyria can also affect the nervous system causing numbness and muscle weakness. This can even occur in the chest wall, which can in turn lead to breathing difficulties. [recordatirarediseases.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]

  Patients with acute attack should be carefully monitored for muscle weakness and respiratory impairment that may require ventilatory support. [web.archive.org]

  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]

  Generally, the most common symptoms being abdominal pain (74%), back pain (56%), chest pain (58%), and nausea and vomiting (73%) 8,10, however there can be a wide range of neuropsychiatric and cutaneous manifestations as well. [radiopaedia.org]

• Myalgia

  Neurological manifestations can affect the central nervous system as much as the peripheral nervous system (myalgia, paresis, ascending flaccid paralysis of the limbs, or convulsions) and can lead to severe complications such as motor paralysis. [orpha.net]

• Blister

  CEP and HEP occur in childhood with severe blistering skin lesions. PCT occurs in adulthood generally and has less severe blistering skin lesions after sun exposure. [porphyriafoundation.org]

  Photocutaneous manifestations are acute and non-blistering, in contrast to the chronic blistering in the other cutaneous porphyrias (including VP). Acute neurologic porphyrias. [ncbi.nlm.nih.gov]

  Chronic blistering photosensitivity, typically on the backs of the hands, is the most common manifestation of VP. The lesions result from sun exposure that activates porphyrins and makes the skin fragile and prone to blister formation. [web.archive.org]

  hemolytic anemia, hyperbilirubinemia, red urine, dark diapers that show a red fluorescence under UV light Phototherapy for hyperbilirubinemia leads to severe skin blistering. [msdmanuals.com]

  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]

• Photosensitivity

  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]

  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]

  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]

  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]

  Porphyria is a condition of cutaneous photosensitivity. It is unclear if radiotherapy (RT) is safe in patients with porphyria. [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]

  HIV Estrogen therapy Sunlight exposure Pathophysiology Clinical findings Cutaneous manifestations Increased fragility of sun-exposed skin → blistering and impaired healing (blistering photosensitivity) Healing results in scarring and milia formation Hypertrichosis [amboss.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]

• 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]

  Hypertrichosis, hyperpigmentation, calcifications and sclerodermoid lesions are uncommon in PP; however, clinical, histopathological and immunofluorescence features can mimic PCT (1). [scielo.org.pe]

  […] therapy Sunlight exposure Pathophysiology Clinical findings Cutaneous manifestations Increased fragility of sun-exposed skin → blistering and impaired healing (blistering photosensitivity) Healing results in scarring and milia formation Hypertrichosis Hyperpigmentation [amboss.com]

  Facial hyperpigmentation and hypertrichosis may occur. [web.archive.org]

  […] 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

  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]

  In all cutaneous porphyrias except erythropoietic protoporphyria and X-linked protoporphyria, cutaneous photosensitivity manifests as fragile skin and bullous eruptions. [msdmanuals.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]

• Psychiatric Manifestation

  Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma. Some patients develop psychosis similar to schizophrenia. [ncbi.nlm.nih.gov]

  There may be 4 categories of neuropsychiatric manifestations: seizures, polyneuropathy, transient sensory-motor symptoms, and cognitive or behavioral abnormalities. Many psychiatric manifestations are also seen in patients with acute porphyria. [medlink.com]

  "Psychiatric Manifestations in three cases of Acute Intermittent Porphyria". Medical Journal, Armed Forces India. 59 (2): 171–173. doi:10.1016/S0377-1237(03)80075-8. ISSN 0377-1237. PMC 4923792. [en.wikipedia.org]

  Managing Chronic Problems The suicide rate in patients with acute porphyria is increased significantly compared with the rate in the general population, possibly owing to depression caused by ongoing psychiatric manifestations or because of chronic pain [cghjournal.org]

• Visual Hallucination

  In this case, a 30-year-old woman had persecutory ideas and visual hallucination. [bmcpsychiatry.biomedcentral.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]

  She was diagnosed with generalized anxiety disorder. The patient developed amenorrhea. A year later with rehabilitation treatment she began to walk around although there was the syndrome of drooping feet and hands. [archivesofmedicine.com]

• Delusion

  The first patient had seizures, mental retardation and psychotic features like delusions and auditory hallucinations. The second patient had monoplegia, mental retardation and delusions[11]. [bmcpsychiatry.biomedcentral.com]

  Other psychiatric symptoms such as anxiety, restlessness, insomnia, depression, mania, hallucinations, delusions, confusion, catatonia, and psychosis may occur.[34] Underlying liver disease[edit] Some liver diseases may cause porphyria even in the absence [en.wikipedia.org]

• 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]

  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]

  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]

• Convulsions

  The serum sodium concentration was significantly negatively correlated with convulsions (, value < 0.05). [hindawi.com]

  Complication management Treatment of convulsions: the most commonly used anticonvulsants are porphyrogenic. Gabapentin and probably vigabatrin can be used to treat convulsions. [patient.info]

  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]

• 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]

  Neurological manifestations can affect the central nervous system as much as the peripheral nervous system (myalgia, paresis, ascending flaccid paralysis of the limbs, or convulsions) and can lead to severe complications such as motor paralysis. [orpha.net]

  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]

  Intravenous glucose alone was recommended only for attacks in which there was mild pain without paresis and hyponatremia. Recommendations The patient described in the clinical scenario was admitted to the hospital. [cghjournal.org]

  […] accumulation of porphobilinogen (PBG) and δ-aminolevulinic acid (ALA) → symptoms Clinical features Fever GI symptoms: severe abdominal pain, nausea, vomiting Neurological abnormalities Polyneuropathy: non-specific pain, weakness/fatigue, paresthesia, paresis [amboss.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]

  Neurologic exam showed extensive peripheral neuropathy. Urine showed high titers of porphobilinogen. [medbullets.com]

  One form, acute intermittent porphyria, causes attacks of acute abdominal or limb pain, weakness due to peripheral neuropathy, epileptic seizures, confusion, and increased pigmentation of the skin with abnormal sensitivity to sunlight. Attacks… [britannica.com]

  Peripheral neuropathy may cause pain in the extremities, back, and chest, with muscle weakness that usually begins proximally in the upper extremities. [cghjournal.org]

• Personality Change

  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]

  Some patients have personality changes and seizures at the outset. With time the illness can involve weakness in many different muscles. The cutaneous and acute forms are treated differently. [ncbi.nlm.nih.gov]

  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]

  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]

  포르피린증이 급성으로 오는 경우 복부, 가슴, 사지, 허리등에 통증이 오게 되며, 저리고(mubness), 따끔거리고(tingling), 마비(parlysis), 경련(cramping), 구토(vomiting), 변비(constipation), 성격변화(personality changes), 정신이상(mental disorders)등이 오게된다. 급성으로 오는 경우 수시간에서 수일내에 발전하며 수일에서 수주까지 지속된다. [m.blog.naver.com]

• Red Urine

  urine, dark diapers that show a red fluorescence under UV light Phototherapy for hyperbilirubinemia leads to severe skin blistering. [msdmanuals.com]

  Symptoms may include: red, itchy, blistered, painful and swollen skin bloody (red) urine neurocutaneous porphyrias – this condition affects both the skin and the nervous system. Sunlight exposure tends to rapidly trigger symptoms. [betterhealth.vic.gov.au]

  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. [sussex.ac.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]

  […] neuropathy (bathing trunk distribution), paresthesias Psychiatric symptoms – confusion, hallucinations, psychosis Usually last Abdominal symptoms – abdominal pain (may be colicky or mimic acute surgical abdomen), nausea, emesis, marked constipation, dark [arupconsult.com]

  CEP is often manifested shortly after birth with dark urine and sunlight sensitivity causing blistering and skin fragility. Later, brownish, fluorescent teeth, increased hair growth, and pronounced scarring may occur. [porphyriafoundation.org]

  Congenital Erythropoietic Porphyria This is a very rare disease with approximately 150 patients reported in the world. congenital erythropoietic porphyria is often manifested shortly after birth with dark urine and sunlight sensitivity causing blistering [rarediseases.org]

  In some forms of porphyria, accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or red urine may be seen. [house.wikia.com]

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]

  Hyponatremia Hyponatremia is a relatively common metabolic manifestation accompanying acute attack. It is usually mild and easily corrected. [signavitae.com]

  Hyponatremia is the most common biochemical manifestation; 14 of 36 patients had severe hyponatremia (<125 mEq/L). [hindawi.com]

• Protoporphyrin Increased

  An increased erythrocyte protoporphyrin can be shown to be due to free protoporphyrin by a simple procedure called ethanol extraction. This is useful for confirming a diagnosis of EPP. [web.archive.org]

  III (porphyrin mainly from porphobilinogen) Protoporphyrin IX > coproporphyrinogen III and porphyrin X Not increased Erythropoietic protoporphyria Not increased Not increased Protoporphyrin increased or decreased Protoporphyrin Acknowledgments We thank [ncbi.nlm.nih.gov]

• Coproporphyrin Increased

  During acute attacks, VP is characterized by increased fecal protoporphyrin and coproporphyrin. In addition, there are increased levels of urinary ALA, PBG, and coproporphyrin III. [clinicaladvisor.com]

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.

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].

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.

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.

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.

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.

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.

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.

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.
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