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Erythropoietic Coproporphyria


Presentation

  • Article 39 Downloads 16 Citations Summary We present data on one patient with an inheritance pattern for two porphyrias.[link.springer.com]
  • Patients with HCP and VP can present with symptoms shared between the acute and cutaneous porphyrias.[en.wikipedia.org]
  • Four of the patients were adolescents presenting with abdominal pain and neuropathy, similar to the symptoms seen in AIP. There was one infant with more severe symptoms presenting with failure to thrive early after birth.[clinicaladvisor.com]
  • At present the Biochemistry Department, St James’s Hospital, Dublin is the only laboratory offering a specific porphyria diagnostic service for the Republic of Ireland (ROI).[porphyria.eu]
Acute Intermittent Porphyria
  • It later became evident that HCP could provoke acute attacks similar to those of acute intermittent porphyria (AIP) and variegate porphyria (VP).[ncbi.nlm.nih.gov]
  • New form of dual porphyria: coexistent acute intermittent porphyria and porphyria cutanea tarda. Eur. J. Clin. Invest. 19 (1989) 20–25 Google Scholar Doss, M., Von Tiepermann, R. and Köpp, W. Harderoporphyrin coproporphyria.[link.springer.com]
  • Ninety-four percent of subjects with predictively identified acute intermittent porphyria, 56 % of those with symptomatic acute intermittent porphyria and 33 % of those with porphyria cutanea tarda never went for medical check-ups. 42 % per cent of acute[tidsskriftet.no]
  • Urea and Electrolites: hyponatraemia from SIADH is a common finding in Acute Intermittent Porphyria (VP and HCP).[myvmc.com]
Pain
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[ncbi.nlm.nih.gov]
  • ICD 10 E … Wikipedia Porphyria — Any of a group of inherited diseases characterized by skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain.[medicine.academic.ru]
  • Another aspect of the painfulness of EPP is the painful abdomen, which may manifest as generalized pain, or may imitate an appendicitis. Some healthy appendices have been removed due to this mimic.[house.wikia.com]
  • The symptoms are very similar to the ones seen in functional abdominal pain, poorly localized pain, no rebound tenderness, constipation, and psychological instability.[clinicaladvisor.com]
  • The symptoms can include: Belly pain, often severe Chest pain Faster heart rate and higher blood pressure Limb and back pain Muscle weakness Tingling and loss of sensation Cramping Vomiting and constipation You may notice changes in your personality or[webmd.com]
Weakness
  • The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under lying defect in cell structural[books.google.de]
  • […] redness § blistering § infections § scarring § changes in pigmentation § increased hair growth Symptoms of acute porphyrias ( include acute intermittent porphyria, ALAD deficiency porphyria ) - abdominal pain - vomiting - constipation - diarrhea - muscle weakness[hjk880524.tripod.com]
  • The muscle weakness can progress to respiratory insufficiency. In addition hallucinations, confusional states and acute psychiatric syndromes can be identified and occasionally seizures will occur.[albertaporphyriasociety.weebly.com]
  • Step 3: close monitoring for the development of new symptoms It is important that someone with this type of porphyria be monitored closely for any new symptoms that may develop, such as muscle weakness.[patient.info]
  • Severe attacks of acute porphyria can sometimes cause nerve damage and muscle weakness that can take months to get better.[webmd.com]
Asymptomatic
  • HCP was first described by Berger and Goldberg in 1955 and was considered an asymptomatic biochemical abnormality.[ncbi.nlm.nih.gov]
  • The condition is usually asymptomatic, but acute attacks resembling those of acute intermittent porphyria can occur. cop·ro·por·phyr·i·a ( kop'rō-pōr-fir'ē-ă ), [MIM*121300] Presence of coproporphyrins in the urine, as in variegate porphyria. coproporphyria[medical-dictionary.thefreedictionary.com]
  • Identification of asymptomatic patients allows them to adjust their lifestyle to avoid common triggering factors. [2] [7] References [ edit ] a b c d e f "#121300 COPROPORPHYRIA, HEREDITARY; HCP". Johns Hopkins University.[en.wikipedia.org]
  • For asymptomatic individuals, the urine studies may be normal, but a fecal porphyrin analysis will show elevation of coproporphyrin III. Screening tests of this kind should be confirmed by DNA analysis to confirm a CPOX mutation.[porphyriafoundation.blogspot.com]
  • Enzyme assays and DNA analyses are useful for diagnostic confirmation, detection of asymptomatic individuals, and genetic counseling.[ommbid.mhmedical.com]
Asymptomatic
  • HCP was first described by Berger and Goldberg in 1955 and was considered an asymptomatic biochemical abnormality.[ncbi.nlm.nih.gov]
  • The condition is usually asymptomatic, but acute attacks resembling those of acute intermittent porphyria can occur. cop·ro·por·phyr·i·a ( kop'rō-pōr-fir'ē-ă ), [MIM*121300] Presence of coproporphyrins in the urine, as in variegate porphyria. coproporphyria[medical-dictionary.thefreedictionary.com]
  • Identification of asymptomatic patients allows them to adjust their lifestyle to avoid common triggering factors. [2] [7] References [ edit ] a b c d e f "#121300 COPROPORPHYRIA, HEREDITARY; HCP". Johns Hopkins University.[en.wikipedia.org]
  • For asymptomatic individuals, the urine studies may be normal, but a fecal porphyrin analysis will show elevation of coproporphyrin III. Screening tests of this kind should be confirmed by DNA analysis to confirm a CPOX mutation.[porphyriafoundation.blogspot.com]
  • Enzyme assays and DNA analyses are useful for diagnostic confirmation, detection of asymptomatic individuals, and genetic counseling.[ommbid.mhmedical.com]
Abdominal Pain
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[ncbi.nlm.nih.gov]
  • Evaluation of the patient with abdominal pain and suspected porphyria Porphyria should suspected in the pediatric population, particularly in adolescents who present with abdominal pain and no obvious clinical explanation.[clinicaladvisor.com]
  • She was suffering from extreme abdominal pain, gallstones and a rash that resembled necrotizing fasciitis.[house.wikia.com]
  • For example, painkillers can be prescribed for abdominal pain and medication can be used to combat nausea and vomiting.[patient.info]
  • pain - vomiting - constipation - diarrhea - muscle weakness, seizure - loss of sensation - hallucination * hereditary coproporphyria and variegate porphyria both have symptoms of cutaneous and acute porphyria.[hjk880524.tripod.com]
Abdominal Pain
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[ncbi.nlm.nih.gov]
  • Evaluation of the patient with abdominal pain and suspected porphyria Porphyria should suspected in the pediatric population, particularly in adolescents who present with abdominal pain and no obvious clinical explanation.[clinicaladvisor.com]
  • She was suffering from extreme abdominal pain, gallstones and a rash that resembled necrotizing fasciitis.[house.wikia.com]
  • For example, painkillers can be prescribed for abdominal pain and medication can be used to combat nausea and vomiting.[patient.info]
  • pain - vomiting - constipation - diarrhea - muscle weakness, seizure - loss of sensation - hallucination * hereditary coproporphyria and variegate porphyria both have symptoms of cutaneous and acute porphyria.[hjk880524.tripod.com]
Constipation
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[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.[icdlist.com]
  • […] when exposed to sunlight § redness § blistering § infections § scarring § changes in pigmentation § increased hair growth Symptoms of acute porphyrias ( include acute intermittent porphyria, ALAD deficiency porphyria ) - abdominal pain - vomiting - constipation[hjk880524.tripod.com]
  • Symptoms are pain in gut, limbs, or torso; paralysis, vomiting, constipation, personality changes, paranoia. These symptoms can last for hours, days, or weeks.[myporphyria.com]
  • The most serious symptoms are caused by acute porphyria which can include anxiety, stomach pain, diarrhea, fever, liver issues, trouble breathing, personality changes, seizures , paralysis, hallucinations and constipation.[disabilitybenefitshome.com]
Constipation
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[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.[icdlist.com]
  • […] when exposed to sunlight § redness § blistering § infections § scarring § changes in pigmentation § increased hair growth Symptoms of acute porphyrias ( include acute intermittent porphyria, ALAD deficiency porphyria ) - abdominal pain - vomiting - constipation[hjk880524.tripod.com]
  • Symptoms are pain in gut, limbs, or torso; paralysis, vomiting, constipation, personality changes, paranoia. These symptoms can last for hours, days, or weeks.[myporphyria.com]
  • The most serious symptoms are caused by acute porphyria which can include anxiety, stomach pain, diarrhea, fever, liver issues, trouble breathing, personality changes, seizures , paralysis, hallucinations and constipation.[disabilitybenefitshome.com]
Vomiting
  • 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.[icdlist.com]
  • […] sensitive skin when exposed to sunlight § redness § blistering § infections § scarring § changes in pigmentation § increased hair growth Symptoms of acute porphyrias ( include acute intermittent porphyria, ALAD deficiency porphyria ) - abdominal pain - vomiting[hjk880524.tripod.com]
  • Symptoms are pain in gut, limbs, or torso; paralysis, vomiting, constipation, personality changes, paranoia. These symptoms can last for hours, days, or weeks.[myporphyria.com]
  • You'll get medicine for pain, nausea, and vomiting. You may also need to get a type of sugar called glucose, which you might take by mouth or get put into your veins through an IV. Your doctor may also give you an injection of hemin (Panhematin).[webmd.com]
  • MB The most important step is to stabilize patients, and address symptoms such as nausea, vomiting, hypertension, and electrolyte imbalances such as hyponatremia.[hematologyandoncology.net]
Hypertension
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[ncbi.nlm.nih.gov]
  • They also can have significant autonomic dysfunction, including tachycardia and hypertension.[hematologyandoncology.net]
  • […] esophageal perforation 食道穿孔 esophageal stenosis 食道狭窄 esophageal varices 食道静脈瘤 esophageal web 食道膜様閉鎖 esophagitis 食道炎 essential amino acid/indispensable amino acid 必須アミノ酸 essential fatty acid 必須脂肪酸 essential hematuria 本態性血尿/本態性血尿症/特発性血尿/特発性血尿症 essential hypertension[jpeds.or.jp]
  • […] nausea, vomiting Neurological abnormalities Polyneuropathy : non-specific pain, weakness/fatigue, paresthesia, paresis Seizures Psychiatric abnormalities ; : hallucinations, disorientation, anxiety, insomnia Autonomic dysfunction ; : tachycardia ;, hypertension[amboss.com]
  • AIP is the most common form of hepatic porphyria and symptoms are often begin after puberty and consist of acute neurovisceral signs, abdominal pain, vomiting, constipation, tachycardia, fever, hypertension and alterations in the central nervous system[medcraveonline.com]
Tachycardia
  • Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), central (epileptic seizures, mental disturbances) and peripheral nervous system[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]
  • The tachycardia and hypertension of the acute attack are thought to be due to sympathetic overactivity and can be controlled using propranolol.[stmina-monastery.org]
  • AIP is the most common form of hepatic porphyria and symptoms are often begin after puberty and consist of acute neurovisceral signs, abdominal pain, vomiting, constipation, tachycardia, fever, hypertension and alterations in the central nervous system[medcraveonline.com]
  • They suffered from back pain, difficulty urinating, psychosis, tachycardia and cramps.[house.wikia.com]
Photosensitivity
  • […] photobiology; Evaluation of patients with photodermatologic conditions; Photoimmunology; Photoaging; Photocarcinogenesis; Polymorphous Light Eruption (PMLE); Actinic Prurigo; Hydroa vacciniforme and solar urticaria; Chronic actinic dermatitis; drug-induced photosensitivity[books.google.de]
  • Topi et al. described two brothers with cutaneous photosensitivity similar to that of erythropoietic protoporphyria, but with elevated RBC PROTO and COPRO III in both. Very little is known about this disease.[ncbi.nlm.nih.gov]
  • […] erythropoietic coproporphyria a rare type of erythropoietic porphyria characterized by mild skin photosensitivity and elevated levels of erythrocyte coproporphyrin III. Medical dictionary . 2011 .[medicine.academic.ru]
  • Clinical severity can range from nonimmune hydrops in utero to transfusion-dependent anemia with severe photosensitivity in early childhood and to relatively mild cutaneous photosensitivity in adults.[ommbid.mhmedical.com]
  • Other drugs that also may decrease photosensitivity include afamelanotide, a synthetic analog of melanocyte stimulating hormone. Afamelanotide is currently available in parts of the European Union.[merckmanuals.com]
Erythema
  • […] exudative erythema 多形滲出性紅斑 erythema infectiosum 伝染性紅斑 erythema marginatum 輪状紅斑 erythema nodosum 結節性紅斑 erythema toxicum/toxic erythema 中毒性紅斑 erythremia/polycythemia vera 真性多血症 PV erythremic myelosis 赤血病性骨髄症 erythroblastic leukemia 赤芽球性白血病 erythroblastic[jpeds.or.jp]
  • Sometimes skin swelling and erythema may be subtle or absent, and EPP and XLPP may go undiagnosed longer than any other of the porphyrias.[merckmanuals.com]
  • Skin changes include acute flares with erythema and edema with pain and burning. This pattern is common with erythropoietic protoporphyria. A second pattern has skin fragility with blisters, erosions, and scars. This pattern is seen the other types.[thedoctorsdoctor.com]
  • Erythema, swelling and blistering occur on exposed sites. Ulceration may follow and healing is slow with scar formation. Repeated episodes of blistering results in mutilation of the ears, nose and fingers.[stmina-monastery.org]
  • […] dominant Periodic abdominal pain, peripheral neuropathy, psychiatric disorders, tachycardia 1 in 10,000-20,000 Uroporphyrinogen (URO) synthase Congenital erythropoietic porphyria (CEP) Erythropoietic Autosomal recessive Severe photosensitivity with erythema[house.wikia.com]
Psychiatric Manifestation
  • It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations.[icd10data.com]
  • The predominant problem is neurologic damage that leads to peripheral and autonomic neuropathies and the psychiatric manifestations. In coproporphyria, skin disease also is present but not as commonly as the neurovisceral symptoms.[emedicine.medscape.com]
Neurologic Manifestation
  • Although most carriers ( 80 percent) do not develop symptoms, other carriers have neurologic manifestations that are usually intermittent, but no cutaneous photosensitivity.[ommbid.mhmedical.com]
  • (b) Porphyria variegata: (i) Increased excretion of porphobilinogen in the urine during acute neurological manifestations and turns to normal in remission. (ii) Elevated urinary copro-and uroporphyrins and also fecal protoporphyrin.[biologydiscussion.com]
  • ALADP is the rarest type of porphyria and is an autosomal recessive disorder. 10 , 11 PCT is a porphyria that causes chronic blistering skin photo toxicity but has no neurological manifestation and is the most common type or form (estimated incidence[medcraveonline.com]
  • Signs & Symptoms of Hepatic Porphyrias Acute attacks consist of a wide variety of symptomology ranging from skin lesions to abdominal pain to neurological manifestations of varying degrees of intensity.[rockwoodnaturalmedicine.com]
  • Seizures could be a neurologic manifestation of the disease but could also be secondary to hyponatremia. Long-term risks for hypertension, impaired renal function. and hepatocellular carcinoma are increased.[clinicaladvisor.com]
Peripheral Neuropathy
  • Features of Textbook of Peripheral Neuropathy Include : ̈ Practical yet comprehensiveóan accessible ìgo-toî reference for clinicians ̈ Covers all clinically relevant peripheral neuropathies ̈ Clinical Pearls and Key Points are set off from the text for[books.google.de]
  • Common symptoms include severe abdominal pain, peripheral neuropathy, and psychiatric symptoms.[mayomedicallaboratories.com]
  • neuropathy, mostly motor, psychiatric disorders and tachycardia.[stmina-monastery.org]
  • Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, peripheral neuropathy and mental disturbances.[house.wikia.com]
  • The symptoms include abdominal pain and cramps, nausea and vomiting, diarrhea or constipation, urinary retention, and the development of peripheral neuropathies with muscle pain and weakness and changes in sensation.[albertaporphyriasociety.weebly.com]
Polyneuropathy
  • Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial[books.google.de]
  • The 5 P's: Painful abdomen, Polyneuropathy, Psychologic disturbances, Purple pee, Precipitated by triggers like drugs Erythropoietic porphyrias Congenital erythropoietic porphyria (Gunther disease) Epidemiology Very rare Severe Genetics Autosomal recessive[amboss.com]
  • For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barre syndrome, and porphyria testing is commonly recommended in those situations.[house.wikia.com]
Mononeuropathy
  • Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial[books.google.de]
Red Urine
  • urine in diaper Porphyria cutanea tarda Commonest form of porphyria in North America and Europe Familial form Sporadic form 70% associated with alcohol abuse and liver damage Toxic form Exposure to polychlorinated aromatic hydrocarbons Hepatoerythropoietic[thedoctorsdoctor.com]
  • Patients usually have blistering skin lesions, hypertrichosis, scarring, and red urine during infancy or childhood. Concurrent conditions that affect the liver may worsen the disease severity; this has been described in a toddler with hepatitis A.[clinicaladvisor.com]
  • 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]
Dark Urine
  • Uroporphyrin I and III; Dark urine is passed from birth Coproporphyrin I and III Protoporphyrin Hereditary Coproporphyria (HCP) Hepatic; Autosomal dominant; Young adulthood Same as PCT (in about one third of patients) Same as AIP Coproporphyrin, ALA,[stmina-monastery.org]
  • 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]

Workup

Hypercholesterolemia
  • (ii) Increase in serum protein-bound iodine (PBI), some degree of hypercholesterolemia and a diabetic type of glucose tolerance curve. The condition is due to a marked increase of hepatic ALA synthase.[biologydiscussion.com]
Liver Biopsy
  • The liver biopsy specimen showed red fluorescence under ultraviolet light. On HE staining, hydropic degeneration of the hepatocytes and many brown granules in the hepatocytes were seen. A part of the granules stained positive for iron.[ncbi.nlm.nih.gov]
  • Patients with abnormal liver function test results should be evaluated by a hepatologist; a liver biopsy may be needed to stage the degree of fibrosis.[merckmanuals.com]
  • Liver biopsy may demonstrate mild portal lymphocytic infiltration or micronodular cirrhosis. Red fluorescence of the teeth under Wood's light.[stmina-monastery.org]

Treatment

  • الصفحة 295 - Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). ‏[books.google.com]
  • The textbookprovides an evidence-based approach to testing, differential diagnosis, and treatment, and should serveas a trusted resource for healthcare professionals confronting the many manifestations of peripheralneuropathy in clinical practice.[books.google.de]
  • If you are able to confirm that the patient has a porphyria, what treatment should be initiated? The treatment will always depend on the type of porphyria (see above for specific treatments in each different type of the disease).[clinicaladvisor.com]
  • What are treatments for Hereditary Coproporphyria? Treatment, complications, and preventive measures are the same as in AIP. Hospitalization is often necessary for acute attacks.[porphyriafoundation.blogspot.com]
  • Treatment approaches Common treatment approaches are summarized in ( Table 2 ). Supportive care and prevention of attacks is the main treatment strategy for porphyrias.[jscimedcentral.com]

Prognosis

  • The prognosis is usually good if the disease is recognized and treated promptly, before nerve damage develops.[porphyriafoundation.blogspot.com]
  • Diagnosis - Congenital erythropoietic prophyria Prognosis - Congenital erythropoietic prophyria Not supplied.[checkorphan.org]
  • H&O What is the prognosis for someone with acute porphyria? MB The overall prognosis is good because specific treatment is available, but symptoms must be recognized and managed correctly.[hematologyandoncology.net]
  • Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). 1992 Jan. 71(1):1-13. [Medline]. Laiwah AC, McColl KE. Management of attacks of acute porphyria.[emedicine.medscape.com]

Etiology

  • ., anemia, alcohol, or chronic heavy metal poisoning ) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria Peak incidence : 40–70 years Sex: Etiology Defective uroporphyrinogen III decarboxylase ( UROD ) Type I: acquired insufficiency of[amboss.com]
  • For porphyria etiology and pathophysiology, see Overview of Porphyrias. Erythropoietic protoporphyria, which comprises about 90% of EPP phenotypic presentations results from inherited deficiency of the enzyme ferrochelatase (FECH).[merckmanuals.com]
  • The etiology of the skin disease may be the deposition of formed porphyrins in the skin that react with sunlight and lead to skin damage.[emedicine.medscape.com]
  • Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. J Invest Dermatol. 2013;133:1688-1690. 14. Wang Y, Langer NB, Shaw GC, et al.[hematology.org]
  • Etiological agents triggering Porphyria Numerous agents that trigger an episode of porphyria have been identified and patients afflicted must be careful when taking prescription medications, estrogens, some herbal medicines, and of environmental exposures[rockwoodnaturalmedicine.com]

Epidemiology

  • ., anemia, alcohol, or chronic heavy metal poisoning ) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria Peak incidence : 40–70 years Sex: Etiology Defective uroporphyrinogen III decarboxylase ( UROD ) Type I: acquired insufficiency of[amboss.com]
  • Patients with Porphyria in Brazil have the same epidemiological characteristic as the US and UK. In Brazil, porphyria should be studied more carefully in order to assess, properly diagnose and treat.[medcraveonline.com]
  • Puy H, Deybach J‐C, Lamoril J et al. (1997) Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. American Journal of Human Genetics 60: 1373–1383. Puy H, Gouya L and Deybach J‐C (2010) Porphyrias.[els.net]
  • […] neurovisceral attacks always have elevations of porphobilinogen and ALA, researchers still are unclear about how this leads to the symptomatic disease because most patients with the genetic defect have excessive porphyrin secretion but no symptoms. [1] Epidemiology[emedicine.medscape.com]
  • Epidemiology Edit In South Africa, the prevalence of variegate porphyria is approximately 1 in 300. In Finland, the prevalence is approximately 1 in 75.000.[house.wikia.com]
Sex distribution
Age distribution

Pathophysiology

  • Stress (e.g., surgery, infection) Pathophysiology : defective PBG-D accumulation of porphobilinogen ( PBG ) and δ-aminolevulinic acid ( ALA ) symptoms Clinical features Fever GI symptoms : severe abdominal pain, nausea, vomiting Neurological abnormalities[amboss.com]
  • The following algorithms are available in Special Instructions: -Porphyria (Acute) Testing Algorithm -Porphyria (Cutaneous) Testing Algorithm Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a[mayomedicallaboratories.com]
  • For porphyria etiology and pathophysiology, see Overview of Porphyrias. Erythropoietic protoporphyria, which comprises about 90% of EPP phenotypic presentations results from inherited deficiency of the enzyme ferrochelatase (FECH).[merckmanuals.com]
  • Pathophysiology Coproporphyria is an autosomal dominant disease that results from defects in the enzyme coproporphyrinogen oxidase. This enzyme speeds the conversion of coproporphyrinogen to protoporphyrinogen.[emedicine.medscape.com]
  • Pathophysiology: The disease is often activated by different environmental or hormonal factors such as drugs, diet, and steroid hormones in individuals with the genetic predisposition.[clinicaladvisor.com]

Prevention

  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.de]
  • Very frequent premenstrual attacks can be prevented by a gonadotropin-releasing hormone (GnRH) analogue administered with expert guidance. In selected cases, frequent noncyclic attacks can be prevented by once- or twice-weekly infusions of hemin.[porphyriafoundation.blogspot.com]
  • Acute Intermittent Porphyria – If acute attacks are successfully prevented life expectancy is normal. Early effective treatment of the acute attcks that do occur usually prevents permanent nerve damage.[myvmc.com]
  • Prevent symptoms by avoiding sun exposure and sometimes using drugs (eg, beta-carotene, cysteine). Hematin and/or RBC hypertransfusion may reduce protoporphyrin overproduction.[merckmanuals.com]
  • 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]

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