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Variegate Porphyria

Variegate porphyria is an autosomal dominant genetic disease of heme metabolism in which partial or total protoporphyrin oxidase deficiency leads to cutaneous and neurological symptoms in childhood. The diagnosis is made by measuring the levels of this enzyme in feces, blood, or urine, while genetic testing is used for confirmation.


Presentation

Together with hereditary coproporphyria (HCP), acute intermittent porphyria (AIP), and δ-aminolevulinic acid dehydratase porphyria (ADP), variegate porphyria (VP) belongs to the group of acute hepatic porphyrias, as mitochondrial protoporphyrin oxidase (PPOX), the enzyme affected in VP and necessary for the seventh step in heme synthesis, performs its respective function of converting protoporphyrinogen IX to protoporphyrin IX in the liver [1] [2]. In VP, autosomal dominant gene mutations of the PPOX lead to its insufficient activity and the onset of cutaneous and neurovisceral symptoms [1] [2] [3]. Chronic blistering lesions in the form of erosions, bullae, and ulcerations with crusting and slow recovery are principal manifestations on the skin [2] [4]. Lesions are usually seen in childhood on the hands and face [2] [4]. The trauma of the skin that is exposed to sunlight seems to be the major risk factor for their appearance [4] [5]. Hypertrichosis and either hyper or hypopigmentation, as well as thickening of the skin are other notable findings [2]. On the other hand, vomiting, constipation, tachycardia, fever, fatigue, abdominal pain, muscle weakness, seizures, mental instability, paresis and neuromuscular deficits are hallmarks of an "acute neurovisceral attack" that is typical for patients suffering from VP [2] [3] [4]. Due to the fact that respiratory paralysis is a known complication, but also because the diagnosis is often delayed, a 10% mortality rate from acute attacks is observed [2] [6]. Patients may exhibit either of the two types of symptoms or both, whereas growth retardation and significant developmental disturbances are seen in the rare homozygous forms of VP [5].

Weakness
  • After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis. Porphyria attack was diagnosed from high urinary levels of aminolevulinic acid and porphobilinogen.[ncbi.nlm.nih.gov]
  • Later, she developed progressively generalized muscle weakness of hands and legs with tingling sensation within one week. Physical exam revealed moderate distal muscle weakness with impaired sensation, but no skin lesion.[neurology.org]
  • On the other hand, vomiting, constipation, tachycardia, fever, fatigue, abdominal pain, muscle weakness, seizures, mental instability, paresis and neuromuscular deficits are hallmarks of an "acute neurovisceral attack" that is typical for patients suffering[symptoma.com]
  • During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations.[en.wikipedia.org]
  • Neurological manifestations include muscle and limb weakness that may progress to areflexic quadriparesis (weak arms and legs), seizures, and mental changes such as anxiety and hallucinations.[dermnetnz.org]
Abdominal Pain
  • Increased sympathetic activity may also have caused intussusception and focal renal vasoconstriction, both of which may be underdiagnosed causes of abdominal pain in acute porphyria.[ncbi.nlm.nih.gov]
  • She was admitted in an acute attack and developed severe dysautonomia manifested clinically by postural hypotension, tachycardia and constipation with severe abdominal pain.[ncbi.nlm.nih.gov]
  • They had no previous history of intense abdominal pain, seizure, or psychiatric disorder Urinary porphyrins were analyzed by High Performance Liquid Chromatography (HPLC).[ncbi.nlm.nih.gov]
  • The congenital form is more serious, resulting in crises of acute abdominal pain and certain neurological complications.[medical-dictionary.thefreedictionary.com]
  • At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis.[ncbi.nlm.nih.gov]
Vomiting
  • At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis.[ncbi.nlm.nih.gov]
  • Abstract Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a propensity to develop acute neuropsychiatric attacks with abdominal pain, vomiting, constipation[ncbi.nlm.nih.gov]
  • On the other hand, vomiting, constipation, tachycardia, fever, fatigue, abdominal pain, muscle weakness, seizures, mental instability, paresis and neuromuscular deficits are hallmarks of an "acute neurovisceral attack" that is typical for patients suffering[symptoma.com]
  • Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhoea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations.[en.wikipedia.org]
  • Systemic symptoms Acute attacks cause severe abdominal pain, uncontrolled vomiting, diarrhoea and constipation.[dermnetnz.org]
Constipation
  • She was admitted in an acute attack and developed severe dysautonomia manifested clinically by postural hypotension, tachycardia and constipation with severe abdominal pain.[ncbi.nlm.nih.gov]
  • A 48-year-old man presented with abdominal pain, constipation and irritability one month after starting phenytoin treatment for a generalized seizure. He was hypertensive, tachycardic (BP 174/98, heart rate (HR) 100 bpm supine) and hypovolaemic.[ncbi.nlm.nih.gov]
  • Abstract Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a propensity to develop acute neuropsychiatric attacks with abdominal pain, vomiting, constipation[ncbi.nlm.nih.gov]
  • On the other hand, vomiting, constipation, tachycardia, fever, fatigue, abdominal pain, muscle weakness, seizures, mental instability, paresis and neuromuscular deficits are hallmarks of an "acute neurovisceral attack" that is typical for patients suffering[symptoma.com]
  • Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhoea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations.[en.wikipedia.org]
Nausea
  • At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis.[ncbi.nlm.nih.gov]
  • Common neurological symptoms include abdominal pain, nausea, vomiting, constipation, extremity pain and weakness, anxiety, restlessness and convulsions.[rarediseases.org]
  • Patients also experience nausea, vomiting, constipation, and increased heart rate and blood pressure. These symptoms and signs are all due to the effects of the disease on the nervous system.[sema4genomics.com]
  • Common symptoms include cutaneous photosensitivity, abdominal pain, constipation, nausea, vomiting, hypertension, tachycardia, neuropathy and back pain. Disorientation and frank psychosis may be conspicuous features of VP.[themedicalbiochemistrypage.org]
  • […] consists of the following: Manage fluid and electrolyte imbalances Control seizures with benzodiazepines, magnesium sulphate or gabapentin Control severe tachycardia and hypertension with beta blockers Manage severe pain with opioid analgesics Reduce nausea[dermnetnz.org]
Abdominal Cramps
  • Masters suggested Ryan's abdominal bleeding might be caused by acute intermittent porphyria, but there were no abdominal cramps to go along with it.[house.wikia.com]
Hypertension
  • He was hypertensive, tachycardic (BP 174/98, heart rate (HR) 100 bpm supine) and hypovolaemic. Abdominal CT demonstrated transient jejunal intussusception and infarction of the left kidney.[ncbi.nlm.nih.gov]
  • […] porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a propensity to develop acute neuropsychiatric attacks with abdominal pain, vomiting, constipation, tachycardia, hypertension[ncbi.nlm.nih.gov]
  • It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances.[uniprot.org]
  • Common symptoms include cutaneous photosensitivity, abdominal pain, constipation, nausea, vomiting, hypertension, tachycardia, neuropathy and back pain. Disorientation and frank psychosis may be conspicuous features of VP.[themedicalbiochemistrypage.org]
  • Management of acute attacks consists of the following: Manage fluid and electrolyte imbalances Control seizures with benzodiazepines, magnesium sulphate or gabapentin Control severe tachycardia and hypertension with beta blockers Manage severe pain with[dermnetnz.org]
Tachycardia
  • She was admitted in an acute attack and developed severe dysautonomia manifested clinically by postural hypotension, tachycardia and constipation with severe abdominal pain.[ncbi.nlm.nih.gov]
  • Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a propensity to develop acute neuropsychiatric attacks with abdominal pain, vomiting, constipation, tachycardia[ncbi.nlm.nih.gov]
  • On the other hand, vomiting, constipation, tachycardia, fever, fatigue, abdominal pain, muscle weakness, seizures, mental instability, paresis and neuromuscular deficits are hallmarks of an "acute neurovisceral attack" that is typical for patients suffering[symptoma.com]
  • It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances.[uniprot.org]
  • Common symptoms include cutaneous photosensitivity, abdominal pain, constipation, nausea, vomiting, hypertension, tachycardia, neuropathy and back pain. Disorientation and frank psychosis may be conspicuous features of VP.[themedicalbiochemistrypage.org]
Photosensitivity
  • The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%).[ncbi.nlm.nih.gov]
  • In VP patients, a worsening of photosensitivity can thus be induced due to complications associated with some other disease, thereby affecting their porphyrin-heme biosynthesis.[ncbi.nlm.nih.gov]
  • Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene (PPOX).[ncbi.nlm.nih.gov]
  • She and a further 10 subjects had experienced photosensitivity. The frequency of acute attacks in this family is therefore 4% (95% confidence interval, CI 1-18%), and of photosensitivity is 39.3% (95% CI 24-58%).[ncbi.nlm.nih.gov]
  • Homozygous variegate porphyria is described in a 14-year-old girl with a unique clinical presentation of photosensitivity from the second year of life, mental retardation, clinodactyly, and normal growth rate.[ncbi.nlm.nih.gov]
Blister
  • A rarer variant, homozygous variegate porphyria (HVP), presents in childhood with recurrent skin blisters and scarring. More variable features of HVP are short stature, brachydactyly, nystagmus, epilepsy, developmental delay and mental retardation.[ncbi.nlm.nih.gov]
  • A 7-year-old Chilean boy presented with severe photosensitivity, blistering, erosions and scarring on sun-exposed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of the fingers.[ncbi.nlm.nih.gov]
  • We report a case of a 48-year-old woman who was diagnosed with hepatocellular carcinoma following a brief history of right upper quadrant pain which was preceded by a few months of blistering lesions in sun-exposed areas.[ncbi.nlm.nih.gov]
  • Two years later, blister formation after sun exposure and reddish urine were first noted. At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures.[ncbi.nlm.nih.gov]
  • Variegate porphyria (VP) is an autosomal dominant disease characterized in adults by mechanical fragility and blistering of sun-exposed skin or acute visceral and neurological manifestations.[ncbi.nlm.nih.gov]
Cutaneous Manifestation
  • There was no relation between genotype assessed by functional analysis and the presence or severity of non-cutaneous manifestations. The mutations were absent from 104 unrelated patients with autosomal dominant VP.[ncbi.nlm.nih.gov]
  • Our patient, a 36-year-old woman, has severe cutaneous manifestations.[ncbi.nlm.nih.gov]
  • Women using oral contraceptives are particularly susceptible to the cutaneous manifestations of VP. Most individuals (at least 75%) who inherit a PPOX mutation are asymptomatic throughout life.[themedicalbiochemistrypage.org]
  • manifestations, notably extreme mechanical fragility of the skin, particularly areas exposed to the sunlight, and by episodes of abdominal pain and neuropathy.[medical-dictionary.thefreedictionary.com]
  • Phlebotomy and taking chloroquine are rarely effective at treating cutaneous manifestations. Micro-phlebotomy is beneficial for some patients. It is necessary to protect the skin from sources of light.[orpha.net]
Hyperpigmentation
  • It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances.[uniprot.org]
  • We present the case of two sisters showing cutaneous signs typical of PCT: blisters, photosensitivity, hyperpigmentation, hypertrichosis, cutaneous fragility, and no acute symptomatology.[porphyria.eu]
  • Blisters are slow to heal and can scar leaving patches of skin that are abnormally dark (hyperpigmentation) or light (hypopigmentation). Skin symptoms may be less common in individuals who live in nontropical climates.[rarediseases.org]
Photosensitive Skin Rash
  • skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity The PPOX gene is responsible for making an enzyme known as protoporphyrinogen oxidase.[rarediseases.info.nih.gov]
Dark Urine
  • The patient recalled passing dark urine after surgery and was subsequently hospitalized for 3 months.[medicaljournals.se]
  • urine Non-acute/cutaneous porphyria is a chronic disease caused by the accumulation of porphyrins in the skin, causing photosensitive skin lesions.[health24.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]
Red Urine
  • Even a purple hue or red urine may be seen. Diagnosis Edit Porphyrin studies Edit Porphyria is diagnosed through biochemical analysis of blood, urine, and stool.[house.wikia.com]
Seizure
  • They had no previous history of intense abdominal pain, seizure, or psychiatric disorder Urinary porphyrins were analyzed by High Performance Liquid Chromatography (HPLC).[ncbi.nlm.nih.gov]
  • We delineate a syndrome principally characterized by growth retardation, developmental delay, epileptic seizures, photosensitivity and an abnormal porphyrin excretion pattern.[ncbi.nlm.nih.gov]
  • In acute porphyric attacks, seizures can be treated with intravenous diazepam, levetiracetam or propofol if status epilepticus develops; a single or few seizures may not require antiepileptic drug treatment in the long term, provided the porphyria itself[pn.bmj.com]
  • At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis.[ncbi.nlm.nih.gov]
  • A 48-year-old man presented with abdominal pain, constipation and irritability one month after starting phenytoin treatment for a generalized seizure. He was hypertensive, tachycardic (BP 174/98, heart rate (HR) 100 bpm supine) and hypovolaemic.[ncbi.nlm.nih.gov]
Confusion
  • For a long time, this disease has caused confusion among the porphyrias because it presents with clinical symptoms and biochemical findings that can be similar to those found in other types of porphyrias.[ncbi.nlm.nih.gov]
  • Confusion, convulsions, and muscular weakness, due to neurologic impairment, may lead to paralysis. An acute attack usually lasts for days or longer. Recovery from severe paralysis is generally slow.[sema4genomics.com]
  • You could also feel agitated, confused, or get seizures. Some complications you could get are: Long-term pain Kidney damage Liver cancer Symptoms of Cutaneous Porphyria Symptoms of cutaneous porphyria happen when your skin is in sunlight.[webmd.com]
Neurologic Manifestation
  • Though variegate prophyria with neurologic manifestations is not uncommon syringomyelic type of sensory loss is most unusual.[ncbi.nlm.nih.gov]
  • Variegate porphyria (VP) is an autosomal dominant disease characterized in adults by mechanical fragility and blistering of sun-exposed skin or acute visceral and neurological manifestations.[ncbi.nlm.nih.gov]
  • It is characterized by cutaneous photosensitivity and/or various neurological manifestations. Protoporphyrinogen oxidase catalyses the penultimate step of haem biosynthesis, and mutations in the PPOX gene have been coupled to VP.[ncbi.nlm.nih.gov]
  • The term "variegate" assigned to this particular porphyria relates to the fact that the disease can present with neurological manifestations, cutaneous photosensitivity or both.[themedicalbiochemistrypage.org]
Personality Change
  • 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]
Dysarthria
  • A 29-yr-old man with neurological symptoms that included tremor, dysarthria, and loss of consciousness was diagnosed as having variegate porphyria, because of increased urinary excretion of delta-aminolevulinic acid, porphobilinogen, uroporphyrin, and[ncbi.nlm.nih.gov]

Workup

Early recognition of VP, particularly when patients develop neurovisceral attacks, can be life-saving, which is why a thorough workup is necessary. The first step is obtaining a detailed patient and family history, given the autosomal dominant nature of the disease. Furthermore, the population of Dutch descendants living in South Africa is at the greatest risk for developing VP due to the founder effect [2] [3] [5]. After history taking, the physical examination, if done properly, could identify typical skin lesions and assess their progression, thus a provisional diagnosis of VP can be made. Laboratory studies are the mainstay in diagnosing porphyrias, and the following tests should be implemented when a suspicion toward VP exists:

  • Stool analysis - The levels of protoporphyrin and coproporphyrin in feces are very high during acute attacks, and are one of the most reliable indicators when it comes to identifying VP as the possible cause [2] [6]. However, normal levels are observed during remissions and milder attacks in some patients and the diagnosis can be missed [2] [6].
  • Serum and urine testing - If patients present with cutaneous lesions, serum levels of porphyrin might be elevated, whereas the urinary determination of aminolevulinic acid dehydratase (ALA) and porphobilinogen (PBG) may be a useful tool during acute attacks [5]. However, one of the most specific forms of testing is the plasma fluorescence emission spectrum analysis, which reveals a unique fluorescence emission peak at 626 nm in a neutral pH [2] [5] [6].

A definite diagnosis, however, is made after conducting genetic studies on the PPOX gene located on chromosome 1, or by detecting a lower PPOX activity in lymphocytes [4] [5] [6].

Hyponatremia
  • We hypothesize that brainstem dysfunction in VP patients with a history of porphyric crises may be due to neurotoxic effects of porphyrin precursors as well as subclinical osmolarity changes due to hyponatremia. Copyright 2012 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • It is very important to monitor patients with hyponatremia because they can develop seizures.[hematologyandoncology.net]
  • There may be autonomic instability and electrolyte changes, particularly hyponatremia. Epilepsy and mental disturbances occur commonly.[muse.jhu.edu]
  • Heme Arginate (NormoSang) is used during crises but also in preventive treatment to avoid crises, one treatment every 10 days Any sign of low blood sodium (hyponatremia) or weakness should be treated with the addition of hematin or heme arginate or even[house.wikia.com]

Treatment

  • However, DNA damage, expressed both as a percentage of DNA in tail and as the tail moment, was greater in VP women than controls after lymphocyte treatment with H(2)O(2).[ncbi.nlm.nih.gov]
  • We describe our experience with treatment with heme arginate, and provide evidence that heme arginate results in a prompt and statistically significant improvement in symptoms.[ncbi.nlm.nih.gov]
  • With early diagnosis and treatment, variegate porphyria is rarely life threatening and it doesn’t usually get worse with time.[rarediseases.info.nih.gov]
  • Pauline Harper and Staffan Wahlin, Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria, Current Treatment Options in Gastroenterology, 10.1007/s11938-007-0044-9, 10, 6, (444-455), (2008). Richard S.[dx.doi.org]

Prognosis

  • The incidence of serious complications and mortality in this series was low, confirming a trend to an increasingly good prognosis for patients with acute porphyria who receive expert treatment.[ncbi.nlm.nih.gov]
  • Prognosis - Variegate porphyria Treatment - Variegate porphyria Liver transplant has been used in the treatment of this condition. Resources - Variegate porphyria Not supplied.[checkorphan.org]
  • Kauppinen R, Mustajoki P: Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors, and associated diseases. Medicine 1992;71:1–13.[doi.org]
  • Very rare childhood cases have been ascribed to the presence of 2 mutant protoporphyrinogen oxidase genes in the same individual. [11, 18] Prognosis Mild attacks of variegate porphyria may resolve within a few to several days with conservative management[emedicine.medscape.com]

Etiology

  • Inglês : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology[decs.bvs.br]
  • Tests for common etiologic diagnosis of neuropathy were negative. Acute porphyria was one of differential diagnosis. Typical pattern of porphyric neuropathy is predominant motor neuropathy. Sensory predominant is uncommon presentation.[neurology.org]
  • […] aminolevulinic acid are found during episodic attacks of systemic symptoms. [5, 9] Acute attack symptoms are caused by dysfunctions of central, autonomic, and peripheral nervous systems that appear to be effects of deranged heme synthesis on neurons. [10] Etiology[emedicine.com]
  • Etiology Variegate porphyria is caused by a deficiency in protoporphyrinogen oxidase (PPOX; the penultimate enzyme in the heme biosynthesis pathway) that leads to an accumulation of porphyrins and their precursors in the liver (delta-aminolevulinic acid[orpha.net]

Epidemiology

  • Qualificadores Permitidos Inglês : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology[decs.bvs.br]
  • Pathophysiology and Epidemiology In people suffering from variegate porphyria porphyrins (protoporphyrin and coproporphyrin) accumulate in the body because of inadequate heme synthesis.[ic.steadyhealth.com]
  • Four South African children manifesting variegate porphyria were compound heterozygotes with the founder mutation on one allele, but a different mutation apparently encoding an enzyme with enough residual activity to enable survival, on the other. [13] Epidemiology[emedicine.medscape.com]
  • Summary Epidemiology Prevalence is around 1/100,000 in European countries and much higher in South Africa due to a founding effect. Clinical description Generally the disease manifests after puberty and preferentially affects women.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology and Epidemiology In people suffering from variegate porphyria porphyrins (protoporphyrin and coproporphyrin) accumulate in the body because of inadequate heme synthesis.[ic.steadyhealth.com]
  • Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain , vomiting , neuropathy and mental disturbances.[indigitrax.org.au]
  • Pathophysiology Inherited as an autosomal dominant trait, variegate porphyria is biochemically characterized by accumulations of the photosensitizing porphyrins protoporphyrin and coproporphyrin. [5] In addition, abnormally high levels of the porphyrin[emedicine.medscape.com]
  • IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela Brena, MD,Post-Graduate School of Dermatology and Venereology, University of Milan, Italy Carlo Gelmetti, MD,chairman of the Pediatric Dermatology Unit, Department of Pathophysiology[routledge.com]

Prevention

  • Recognition of the carrier status is the first step of an efficient preventive care. This could be achieved by measurement of PO activity which is a sensitive and specific but tedious method.[ncbi.nlm.nih.gov]
  • Knowledge on the carrier status within a family does not only allow for adequate genetic counseling but also for prevention of the potentially life-threatening acute porphyric attacks.[ncbi.nlm.nih.gov]
  • Avoiding your triggers will help prevent bouts of symptoms. Remember that everyone with porphyria is different. Some people have milder symptoms than others. Treatments can help you feel better and prevent complications.[webmd.com]
  • Desnick, RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice, Proceedings of the National Academy of Sciences, 111, 21, (7777), (2014). Jennifer A. Tracy and P.[dx.doi.org]

References

Article

  1. Stojeba N, Meyer C, Jeanpierre C, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl. 2004;10(7):935-938.
  2. Ramanujam V-MS, Anderson KE. Porphyria Diagnostics – Part 1: A brief overview of the porphyrias. Curr Protoc Hum Genet. 2015;86:17.20.1-17.20.26.
  3. Christiansen AL, Aagaard L, Krag A, Rasmussen LM, Bygum A. Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013. Acta Derm Venereol. 2016;96(7):868-872
  4. Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias. Fuller M, ed. Metabolites. 2014;4(4):977-1006.
  5. Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds. Harrison's Principles of Internal Medicine, 18e. New York, NY: McGraw-Hill; 2012.
  6. Horner ME, Alikhan A, Tintle S, Tortorelli S, Davis DM, Hand JL. Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Int J Dermatol. 2013;52(12):1464-1480.

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Last updated: 2019-07-11 21:14