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]

  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]

  […] 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]

  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]

• Severe Pain

  Following a variable period of sun exposure — typically about 30 minutes — patients complain of severe pain, burning and discomfort in exposed areas. [ippn.info]

  pain, vomiting, dehydration or problems breathing Cutaneous porphyrias Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight and reducing the amount of porphyrins in your body to help eliminate your symptoms. [mayoclinic.org]

  Systemic symptoms Acute attacks cause severe abdominal pain, uncontrolled vomiting, diarrhoea and constipation. [dermnetnz.org]

  Pain can be very severe and may require substantial doses of opioids. [ceaccp.oxfordjournals.org]

  This is often characterised by severe pain and stiffness in the thighs and back and then loss of tendon reflexes, and motor paralysis. If this begins to develop, monitor peak flow rate/perform spirometry. [patient.info]

• Limb Pain

  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]

  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]

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

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

• 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

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

  Acute porphyria should be considered in any patient with abdominal pain in combination with neuropsychiatric features, motor neuropathy, or hyponatremia. [ncbi.nlm.nih.gov]

  Gabapentin, pregabalin, and amitryptilline are safe drugs to treat neuropathic pain. 9 Patients with undiagnosed porphyria may also present at chronic pain clinic for management of chronic abdominal, pelvic, or back pain. [ceaccp.oxfordjournals.org]

  […] 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]

• Vomiting

  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]

  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]

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

  Vomiting 43-88 Nausea and vomiting often accompany abdominal pain. Constipation 48-84 May be accompanied by bladder paresis. [clinicaladvisor.com]

  In the absence of a family history of porphyria, non-specific symptoms, such as abdominal pain and vomiting, may be attributed to other disorders. [healthofchildren.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]

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

  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]

  […] symptoms (5 P’s) severe abdominal p ain without tenderness on palpation neurological symptoms p olyneuropathy seizures, weakness, and paralysis p sychiatric symptoms anxiety and insomnia p ort wine-colored urine p recipitated by an exposure vomiting constipation [medbullets.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]

• 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]

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

  Meperidine can also be used safely; there is less experience using fentanyl PCAS, but it is reported as safe to use. 3 Offering regular prochlorperazine or ondansetron can help manage opioid-induced nausea. [ceaccp.oxfordjournals.org]

  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]

  Vomiting 43-88 Nausea and vomiting often accompany abdominal pain. Constipation 48-84 May be accompanied by bladder paresis. [clinicaladvisor.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]

  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]

  Jaundice may or may not be present. [54] 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]

• Hypertension

  Other long-term complications include chronic arterial hypertension and subsequent renal impairment. [clinicaladvisor.com]

  […] severe, poorly localized Another cause of acute abdomen Associated nausea and vomiting Endometriosis/pelvic inflammatory disease Absence of fever or leucocytosis Irritable bowel syndrome Opiate addiction Cardiovascular signs Tachycardia Tachyarrhythmia Hypertension [ceaccp.oxfordjournals.org]

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

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

• Tachycardia

  Other useful clues are a history of dark urine, especially reddish urine, tachycardia, and systemic arterial hypertension during attacks. [clinicaladvisor.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]

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

  […] p ain without tenderness on palpation neurological symptoms p olyneuropathy seizures, weakness, and paralysis p sychiatric symptoms anxiety and insomnia p ort wine-colored urine p recipitated by an exposure vomiting constipation Physical exam vitals tachycardia [medbullets.com]

• Muscle Weakness

  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]

  Besides having abdominal and nerve pain, the patient may suffer rapid heartbeat, mania, muscle cramps, muscle weakness, breathing problems, hallucinations, and coma. [rxlist.com]

  The most common symptoms are: skin problems, like sensitivity to the sun, blistering, discolouration and scarring abdominal pain muscle weakness numbness in the arms and legs confusion and seizures Porphyria diagnosis Because porphyria can cause so many [healthdirect.gov.au]

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

  weakness A health care provider diagnoses porphyria with blood, urine, and stool tests. [surgery.ucsf.edu]

• Back Pain

  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]

  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]

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

  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]

  Areas of the skin that are exposed to sunlight are susceptible to burning, blistering, and scarring. [healthofchildren.com]

  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]

  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]

• Photosensitivity

  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]

  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]

  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]

  Two distinct patterns of skin disease are seen in porphyria: Immediate photosensitivity. This is typical of XLDPP and EPP. [ippn.info]

• 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]

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

• Skin Disease

  None of these are associated with acute attacks; their primary manifestation is with skin disease. [ippn.info]

  Upload media Wikipedia Instance of disease, designated intractable/rare diseases Subclass of Inherited metabolic disorder, inborn disorder of porphyrin and haem metabolism, genetic photodermatosis, metabolic skin disease, photodermatosis, nephropathy [commons.wikimedia.org]

  Skin lesions may be present during acute crises in patients with VP and HCP. [ceaccp.oxfordjournals.org]

  Primary objective: Evaluate the impact of afamelanotide on the severity of skin disease in patients with VP. [porfiria.org]

  This article presents the clinical examples of skin diseases in patients with HIV-infection. [vestnikdv.ru]

• Hyperpigmentation

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

  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]

  […] 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]

  […] 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]

• 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 four 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]

• 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. [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]

  […] 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]

  Other useful clues are a history of dark urine, especially reddish urine, tachycardia, and systemic arterial hypertension during attacks. [clinicaladvisor.com]

• Seizure

  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]

  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]

  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]

  Critical care admission may be required for supportive treatment, including respiratory support, control of seizures, or treatment of a precipitating infection. [ceaccp.oxfordjournals.org]

• Confusion

  CASE REPORT: A 40-year-old man presented to the Emergency Department (ED) as a major trauma call, having been found in an "acutely confused state" surrounded by broken glass. [ncbi.nlm.nih.gov]

  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]

  Definition of the porphyria are a genetic abnormality of metabolism causing abdominal pains and mental confusion ▲ [meaningin.com]

  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]

• 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

  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 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]

  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]

  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]

  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]

• 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]

  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]

  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]

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

  […] 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]

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

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