Porphyria - Revision history

Ihearttroponin: /* Decrease heme synthesis */

2025-04-25T04:21:36Z

Decrease heme synthesis

← Older revision		Revision as of 04:21, 25 April 2025
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	*[[Dextrose\|Glucose]] load		*[[Dextrose\|Glucose]] load
	**Decreases porphyrin production		**Decreases porphyrin production
	**E.g. D5NS at 2L/~~hr x~~ 24h<ref>https://emedicine.medscape.com/article/205220-treatment</ref>==		**E.g. D5NS at 2L/24h<ref>https://emedicine.medscape.com/article/205220-treatment</ref>==
	**Avoid D5/D10W due to risk of hyponatremia given significant free water load		**Avoid D5/D10W due to risk of hyponatremia given significant free water load
	*Hemin (Panhematin®)		*Hemin (Panhematin®)

Rossdonaldson1: /* Background */

2022-12-14T19:08:03Z

Background

← Older revision		Revision as of 19:08, 14 December 2022
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	==Background==		==Background==
			[[File:Heme synthesis.png\|thumb\|Heme synthesis with reactions occuring in the cytoplasm and some in the mitochondrion (yellow).]]
	*Inherited and/or acquired disorders in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen and δ-Aminolevulinic acid [ALA])		*Inherited and/or acquired disorders in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen and δ-Aminolevulinic acid [ALA])
	*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes		*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes

Rossdonaldson1: /* Clinical Features */

2022-12-14T18:49:44Z

Clinical Features

← Older revision		Revision as of 18:49, 14 December 2022
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	==Clinical Features==		==Clinical Features==
			[[File:Urine of patient with porphyria.png\|thumb\|Urine on the first day (left) compared to urine after three days of sun exposure (right) showing the classic change in color to "port wine-color."]]
	*Gastrointestinal symptoms		*Gastrointestinal symptoms
	**Acute [[abdominal pain]] (85-90% of attacks)		**Acute [[abdominal pain]] (85-90% of attacks)

Josgood: /* Background */

2022-12-09T00:57:57Z

Background

← Older revision		Revision as of 00:57, 9 December 2022
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	==Background==		==Background==
	*Inherited and/or acquired disorders of in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen and δ-Aminolevulinic acid [ALA])		*Inherited and/or acquired disorders in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen and δ-Aminolevulinic acid [ALA])
	*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes		*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes
	*[[Acute intermittent porphyria]] is most salient to EM		*[[Acute intermittent porphyria]] is most salient to EM

Kxl328: /* Clinical Features */

2021-09-17T20:42:10Z

Clinical Features

← Older revision		Revision as of 20:42, 17 September 2021
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	*Neurologic symptoms		*Neurologic symptoms
	**[[Headache]]		**[[Headache]]
	**[[~~seizure~~]]		**[[Seizure]]
	**[[Numbness\|Sensory loss]] (40%)		**[[Numbness\|Sensory loss]] (40%)
	***An indication of a severe and potentially life-threatening attack		***An indication of a severe and potentially life-threatening attack
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	**[[Urinary retention\|Bladder paresis]]		**[[Urinary retention\|Bladder paresis]]
	*Psychiatric symptoms		*Psychiatric symptoms
	**Increased risk of schizophrenia ~~& Bipolar~~ disorder <ref>Fredrick, Thomas, M. D., et al. “Turning Purple with Pain.” The New England Journal of Medicine, vol. 385, no. 6, 2021, pp. 549–54, doi:10.1056/NEJMcps2105278.</ref>		**Increased risk of schizophrenia and bipolar disorder <ref>Fredrick, Thomas, M. D., et al. “Turning Purple with Pain.” The New England Journal of Medicine, vol. 385, no. 6, 2021, pp. 549–54, doi:10.1056/NEJMcps2105278.</ref>
	**[[Agitation]], [[confusion]], combativeness		**[[Agitation]], [[confusion]], combativeness
	**Anxiety & depression (55%)<ref>Fredrick, Thomas, M. D., et al. “Turning Purple with Pain.” The New England Journal of Medicine, vol. 385, no. 6, 2021, pp. 549–54, doi:10.1056/NEJMcps2105278.</ref>		**Anxiety & depression (55%)<ref>Fredrick, Thomas, M. D., et al. “Turning Purple with Pain.” The New England Journal of Medicine, vol. 385, no. 6, 2021, pp. 549–54, doi:10.1056/NEJMcps2105278.</ref>

Jonrako: /* Evaluation */

2021-08-09T03:21:24Z

Evaluation

← Older revision		Revision as of 03:21, 9 August 2021
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	**acute attack, spot urine can be 20-200mg/L		**acute attack, spot urine can be 20-200mg/L
	*Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation.		*Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation.
	*Hyponatremia has been documented in up to 60% of acute attacks & is attributed to elevated levels of antidiuretic hormone<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref>		*[[Hyponatremia]] has been documented in up to 60% of acute attacks & is attributed to elevated levels of antidiuretic hormone<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref>

	==Management==		==Management==

Jonrako: /* Evaluation */

2021-08-09T03:20:49Z

Evaluation

← Older revision		Revision as of 03:20, 9 August 2021
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	**acute attack, spot urine can be 20-200mg/L		**acute attack, spot urine can be 20-200mg/L
	*Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation.		*Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation.
			*Hyponatremia has been documented in up to 60% of acute attacks & is attributed to elevated levels of antidiuretic hormone<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref>

	==Management==		==Management==

Jonrako: /* Background */

2021-08-09T03:17:19Z

Background

← Older revision		Revision as of 03:17, 9 August 2021
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	==Background==		==Background==
	*Inherited and/or acquired disorders of in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen & δ-Aminolevulinic acid {ALA})		*Inherited and/or acquired disorders of in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen and δ-Aminolevulinic acid [ALA])
	*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes		*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes
	*[[Acute intermittent porphyria]] is most salient to EM		*[[Acute intermittent porphyria]] is most salient to EM

Jonrako: /* Background */

2021-08-09T03:16:16Z

Background

← Older revision		Revision as of 03:16, 9 August 2021
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	==Background==		==Background==
	*Inherited and/or acquired disorders of in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins		*Inherited and/or acquired disorders of in which there are enzyme deficiencies involved in heme biosynthesis, resulting in build up of porphyrins (Porphobilinogen & δ-Aminolevulinic acid {ALA})
			*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes
	*[[Acute intermittent porphyria]] is most salient to EM		*[[Acute intermittent porphyria]] is most salient to EM
	*Autosomal dominant, but poor penetrance
	*Heme is a component of many essential hemoproteins, such as hemoglobin, myoglobin and cytochromes, including the cytochrome [[P450]] enzymes
	*The first enzyme in the heme production pathway is ALA synthase (ALAS), which controls the rate of heme synthesis in the liver. This enzyme is down-regulated by heme.		*The first enzyme in the heme production pathway is ALA synthase (ALAS), which controls the rate of heme synthesis in the liver. This enzyme is down-regulated by heme.
	*The enzyme deficiencies in porphyria limit the capacity of the liver to increase heme synthesis.		*The enzyme deficiencies in porphyria limit the capacity of the liver to increase heme synthesis.

Jonrako: /* Clinical Features */

2021-08-09T03:11:40Z

Clinical Features

← Older revision		Revision as of 03:11, 9 August 2021
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	*Neurologic symptoms		*Neurologic symptoms
	**[[Headache]]		**[[Headache]]
			**[[seizure]]
	**[[Numbness\|Sensory loss]] (40%)		**[[Numbness\|Sensory loss]] (40%)
	***An indication of a severe and potentially life-threatening attack		***An indication of a severe and potentially life-threatening attack
	***Neuropathy can progress to [[respiratory failure]] in hours or days		***Neuropathy can progress to [[respiratory failure]] in hours or days
	**[[Urinary retention\|Bladder paresis]]		**[[Urinary retention\|Bladder paresis]]
	**[[Agitation]], [[confusion]], combativeness, ~~[[seizure]]~~		*Psychiatric symptoms
			**Increased risk of schizophrenia & Bipolar disorder <ref>Fredrick, Thomas, M. D., et al. “Turning Purple with Pain.” The New England Journal of Medicine, vol. 385, no. 6, 2021, pp. 549–54, doi:10.1056/NEJMcps2105278.</ref>
			**[[Agitation]], [[confusion]], combativeness
			**Anxiety & depression (55%)<ref>Fredrick, Thomas, M. D., et al. “Turning Purple with Pain.” The New England Journal of Medicine, vol. 385, no. 6, 2021, pp. 549–54, doi:10.1056/NEJMcps2105278.</ref>

	==Differential Diagnosis==		==Differential Diagnosis==