Paroxysmal extreme pain disorder
آخر تحديث 18 Aug 2020
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Paroxysmal extreme pain disorder is a condition characterised by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea).
الوصف
Paroxysmal extreme pain disorder is a condition characterised by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea).
As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks.
Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Familial rectal pain
PEPD
PEXPD
Submandibular, ocular, and rectal pain with flushing
Related patient information and medicines
Patient information leaflet
اضطراب عصبي وظيفي
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الاضطرابات الجسدية والوظيفية
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اضطراب الشخصية التجنبية
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Patient information leaflet
متلازمة ألم المدور الأكبر
متلازمة ألم المدور الأكبر هو a condition that causes pain over the outside of the upper thigh (or both thighs) and hip. The cause is usually due to inflammation or injury to some of the tissues that lie over the bony prominence (the greater trochanter) at the top of the thigh bone... Greater trochanteric pain syndrome (GTPS), also known.
Patient information leaflet
دوار الوضعة الانتيابي الحميد
دوار الوضعة الانتيابي الحميد usually causes short episodes of intense dizziness or vertigo when the head is moved in certain directions. Vertigo is the sensation that you (or your surroundings) are moving. This is often described as "the room spinning around". What is benign paroxysmal positional vertigo. Benign paroxysmal positional.
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Patient information leaflet
متلازمة الألم الإقليمية المعقدة (CRPS)
Complex regional pain syndrome is a debilitating, painful condition in a limb, associated with nerve, skin and bone abnormalities. The condition often follows an injury to that limb. However, there is no relationship to the severity of the injury, and in some cases there is no history of any injury. It usually affects one limb, but can later.
قراءة إضافية ومراجع
- Paroxysmal extreme pain disorder; MedlinePlus, National Library of Medicine.
- Dabby R. Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations. Curr Neurol Neurosci Rep. 2012 Feb;12(1):76-83. doi: 10.1007/s11910-011-0233-8.
- Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG. Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. Mol Pain. 2011 Dec 2;7:92. doi: 10.1186/1744-8069-7-92.
- Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 2006 Dec 7;52(5):767-74. doi: 10.1016/j.neuron.2006.10.006.
- Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutieres F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB. Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. doi: 10.1212/01.wnl.0000268065.16865.5f.
- Fischer TZ, Waxman SG. Familial pain syndromes from mutations of the NaV1.7 sodium channel. Ann N Y Acad Sci. 2010 Jan;1184:196-207. doi: 10.1111/j.1749-6632.2009.05110.x.
- Lampert A, O'Reilly AO, Reeh P, Leffler A. Sodium channelopathies and pain. Pflugers Arch. 2010 Jul;460(2):249-63. doi: 10.1007/s00424-009-0779-3. Epub 2010 Jan 26.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Nov 2012 | نُشر في الأصل
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