porphyria
Let an agent explain the porphyrias and their kinds, relay mechanisms, triggers, diagnosis and treatment from haematology and dermatology guidelines in general terms, route people with symptoms or a diagnosis to specialists, and distinguish porphyrias from other causes of abdominal pain, photosensitivity and from popular myths about the conditions.
Research draft, second pass
A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.
written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify
Researched by: Claude
Purpose and description
Let an agent explain the porphyrias and their kinds, relay mechanisms, triggers, diagnosis and treatment from haematology and dermatology guidelines in general terms, route people with symptoms or a diagnosis to specialists, and distinguish porphyrias from other causes of abdominal pain, photosensitivity and from popular myths about the conditions.
A group of rare inherited or acquired disorders of haem synthesis in which porphyrin precursors accumulate, divided into acute hepatic porphyrias that cause abdominal pain, neurological and psychiatric attacks, and cutaneous porphyrias including erythropoietic forms that cause photosensitivity, with rare variants such as harderoporphyria, Chester porphyria and erythropoietic uroporphyria arising with myeloid malignancy; acute attacks can be life-threatening and need urgent specialist care.
What it is for: Not applicable; a disease group.
It can be route emergencies first; explain kinds and mechanisms; relay diagnosis and treatment; distinguish related conditions.
Distinguishing features
Haem pathway defects
Acute and cutaneous
Triggered attacks
Rare
What it looks like
Not a visible object; attacks of pain or skin blistering in sunlight.
Physical character
known types: about 8 count - main
acute intermittent porphyria prevalence: about 1 in 20000 note - Europe
haem synthesis enzymes: 8 count
How it is recognised
Disorders of haem synthesis
Acute hepatic porphyrias, erythropoietic porphyrias, harderoporphyria, Chester porphyria, uroporphyria with myeloid malignancy
Other causes of abdominal pain and photosensitivity differ; vampire myths are folklore
Related models
is a kind of - in registry terms
is a kind of - in registry terms, for cutaneous forms
is a kind of - in registry terms
involves - synthesis pathway defects
In practice
Families and kinds
acute hepatic porphyrias including acute intermittent porphyria
cutaneous hepatic porphyrias such as porphyria cutanea tarda
erythropoietic porphyrias including erythropoietic protoporphyria
rare variants such as harderoporphyria and Chester porphyria
acquired porphyrias with myeloid malignancy
Identifiers
ICD-10 E80.0-E80.2 porphyrias
MeSH D011164 Porphyrias
Standards and regulation
European Porphyria Network and national guidelines
Safe drug lists for porphyria
Orphan drug approvals
Failure modes and hazards
Missed acute attacks and unsafe drugs
Agents giving personal medical advice
Myths linking porphyria to vampires
Also called
Where this came from
wikidata · CC0 1.0
Also registered as vr.tr.porphyria
Drafted structure
Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.
Emergency Acute attacks.
Clinical.
Act
Act now.
Act
Act.
- Does the user describe severe abdominal pain, weakness, confusion or seizures in a known or suspected porphyria, which need emergency care? boundary
- Has the agent directed the user to emergency services or their specialist before anything else? action
Drugs
Safe drugs.
Drugs
Drugs.
- Why do drug safety lists matter in acute porphyria, and where are they published? provenance
- Which entry fits the porphyria drug safety database? action
Understand What porphyrias are.
Clinical.
Definition
Definition and kinds.
Definition
Definition.
- What are the porphyrias, and how do acute hepatic, cutaneous and erythropoietic forms and the rare variants differ? definition
- Is the question about the group or a personal case needing a specialist? boundary
Mechanism
Mechanism.
Mechanism
Mechanism.
- How do enzyme defects in haem synthesis cause accumulation of precursors and symptoms? provenance
- Which entry fits the specific type? action
Care Diagnosis and treatment.
Clinical.
Diagnosis
Diagnosis.
Diagnosis
Diagnosis.
- How are porphyrias diagnosed by urine, blood and genetic tests, as guidelines describe? provenance
- Which references are standard? provenance
Treatment
Treatment.
Treatment
Treatment.
- What treatments exist, from haemin and givosiran to sun protection and afamelanotide, in general terms? provenance
- Which sources are cited? provenance
Context Living and history.
Context.
Living
Living with porphyria.
Living
Living.
- How do people manage triggers and daily life, and where are patient organisations? action
- Which entry fits porphyria patient organisations? action
History
History and myths.
History
History.
- How were porphyrias discovered, what is claimed about King George III, and why are vampire links dismissed, with positions attributed? provenance
- Which entry fits the history of medicine? action
What the second pass must settle
- Should acute intermittent porphyria and erythropoietic protoporphyria be separate primary entries?
- How should guideline sources be linked?
- The registry entry has merged aliases naming rare variants; should they be split off?