Eythromelalgia

[andrewdevereau]

submitted on behalf of David Bennett, Professor of neurology and neurobiology, Nuffield department of clinical neurosciences, Uni. of Oxford

For new term requests, please provide us with the following information:

1. Preferred term label

Primary erythromelalgia

2. Synonyms

3. Textual definition (should be understandable even for non-specialists, please include a PubMed ID for relevant articles providing additional information about the suggestion)

Pain and erythema of the extremities that is exacerbated by warming and relieved by cooling. Initially episodic but may become persistent. PMID: 14985375 PMID: 24813307

4. Parent term (use HPO Browser or OLS)

Chronic pain HP:0012532

5. Which diseases are characterized by this term ? (e.g. Orphanet- or OMIM-id)

Primary erythromelalgia – OMIM 133020

6. Your nano-attribution (ORCID-id or label, e.g. HPO:probinson (organization:name))

https://orcid.org/0000-0002-1089-1543

[pnrobinson]

@andrewdevereau This is a disease that is characterized by a number of phenotypic features. I think that the primary phenotypic characteristic, that is not currently in HPO, is something like this

Episodic painful reddish skin discoloration Recurrent burning pain, warmth and redness of the extremities. Later the name “erythromelalgia” and “erythermalgia” were used respectively for cases secondary to myeloproliferative disorders and idiopathic cases that were refractory to aspirin. At present, erythromelalgia is classified into PE and secondary erythromelalgia, based on the absence or presence of diseases or drugs that may associate with the onset or precipitation of its symptoms (https://www.ncbi.nlm.nih.gov/pubmed/26419464).

This itself is a bundled term, but because it occurs in an atomic way in Primary erythromelalgia and some other diseases, I think it is appropriate to be an HPO term.

[pnrobinson]

I am thinking that probably "Erythromelalgia" is the best primary term label with definition Def: Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. Comment: Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity.

[pnrobinson]

Adding term as HP:0032147