Porphyria history and symptoms: Difference between revisions

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{{Porphyria}}
{{Porphyria}}
{{CMG}}; {{AE}}


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==Overview==
==Overview==


==History==
==History==


==Symptoms==
==Symptoms==
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* [[Dehydration]] is common.
* [[Dehydration]] is common.
* [[Seizures]]
* [[Seizures]]
* Motor neuropathies predominate but almost any neuropathy can be seen.  The neuropathic effects can progress and become severe leading to irreversible neurologic damage, a Guillian-Barre type syndrome with paralysis, bulbar dysfunction, respiratory failure and death.
* Motor neuropathies predominate but almost any neuropathy can be seen.   
The hepatic porphyrias primarily affect the [[nervous system]], resulting in [[abdominal pain]], [[vomiting]], acute [[neuropathy]], [[seizure]]s and mental disturbances, including [[hallucination]]s, [[clinical depression|depression]], [[anxiety]] and [[paranoia]]. [[Cardiac arrhythmia]]s and [[tachycardia]] (fast heart rate) may develop as the [[autonomic nervous system]] is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. [[Constipation]] is frequently present, as the nervous system of the gut is affected, but [[diarrhea]] can also occur.
 
The hepatic porphyrias primarily affect the [[nervous system]], resulting in [[abdominal pain]], [[vomiting]], acute [[neuropathy]], [[seizure]]s and mental disturbances, including [[hallucination]]s, [[clinical depression|depression]], [[anxiety]] and [[paranoia]]. Pain can be severe and can, in some cases, be both acute and chronic in nature. [[Constipation]] is frequently present, as the nervous system of the gut is affected, but [[diarrhea]] can also occur.


Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for [[Guillain-Barré syndrome]], and porphyria testing is commonly recommended in those scenarios.<ref>Albers JW, Fink JK. Porphyric neuropathy. ''Muscle Nerve'' 2004;30:410-22. PMID 15372536.</ref> [[Lupus erythematosus]] features [[photosensitivity]], pain attacks and shares various other symptoms with porphyria.<ref>Roelandts R. The diagnosis of photosensitivity. ''Arch Dermatol'' 2000;136:1152-7. PMID 10987875.</ref>
Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for [[Guillain-Barré syndrome]], and porphyria testing is commonly recommended in those scenarios.<ref>Albers JW, Fink JK. Porphyric neuropathy. ''Muscle Nerve'' 2004;30:410-22. PMID 15372536.</ref> [[Lupus erythematosus]] features [[photosensitivity]], pain attacks and shares various other symptoms with porphyria.<ref>Roelandts R. The diagnosis of photosensitivity. ''Arch Dermatol'' 2000;136:1152-7. PMID 10987875.</ref>
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==References==
==References==
{{Reflist|2}}
{{reflist|2}}


[[Category:Needs content]]
[[Category:Dermatology]]
[[Category:Gastroenterology]]
[[Category:Hematology]]
[[Category:Endocrinology]]


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Latest revision as of 13:34, 22 July 2016

Porphyria Microchapters

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Overview

History

Symptoms

Acute porphyria

The cutaneous sensitivity to light is due to excitation of accumulated porphyrins in the skin by UV light. This leads to progressive damage, scarring and deformation.

The “ Acute porphyrias ”: AIP, VP, CP and ALA-dehydratase deficiency are characterized by acute attacks . The acute attack is characterized by:

The hepatic porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances, including hallucinations, depression, anxiety and paranoia. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhea can also occur.

Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those scenarios.[1] Lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria.[2]

Cutaneous porphyria

The erythropoietic porphyrias primarily affect the skin, causing photosensitivity (photodermatitis), blisters, necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead. Often there is no abdominal pain which distinguishes it from other porphyrias.

In some forms of porphyria, accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or pink urine may be seen. Heme precursors may also accumulate in the teeth and fingernails, giving them a reddish appearance.

References

  1. Albers JW, Fink JK. Porphyric neuropathy. Muscle Nerve 2004;30:410-22. PMID 15372536.
  2. Roelandts R. The diagnosis of photosensitivity. Arch Dermatol 2000;136:1152-7. PMID 10987875.

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