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TNF receptor-associated periodic fever syndrome (TRAPS)(FPF)

MedGen UID:
226899
Concept ID:
C1275126
Disease or Syndrome
Synonyms: Autosomal Dominant Familial Periodic Fever; Familial Hibernian fever; FPF; TNF receptor-associated periodic syndrome; Tumor necrosis factor receptor-associated periodic syndrome
SNOMED CT: TNF receptor-associated periodic fever syndrome (TRAPS) (403833009); Familial autosomal dominant periodic fever (403833009); TNF receptor-associated periodic fever syndrome (403833009); TRAPS - TNF receptor-associated periodic fever syndrome (403833009); Tumor necrosis factor (TNF) receptor-associated periodic fever syndrome (403833009); Tumor necrosis factor receptor-associated periodic fever syndrome (403833009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TNFRSF1A (12p13.31)
 
Monarch Initiative: MONDO:0007727
OMIM®: 142680
Orphanet: ORPHA32960

Definition

Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by Drenth and van der Meer, 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes.

During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis, typically in mid-adulthood.

The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in childhood.  https://medlineplus.gov/genetics/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Hepatic amyloidosis
MedGen UID:
75642
Concept ID:
C0267839
Disease or Syndrome
A form of amyloidosis that affects the liver.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Polyarticular arthritis
MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
An arthritis affecting five or more separate joints.
Muscle stiffness
MedGen UID:
113151
Concept ID:
C0221170
Sign or Symptom
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Oligoarthritis
MedGen UID:
856143
Concept ID:
C3892044
Disease or Syndrome
A type of arthritis that affects up to four joints in the first six months of disease.
Pleuritis
MedGen UID:
10807
Concept ID:
C0032231
Disease or Syndrome
Inflammation of the pleura.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Erysipelas
MedGen UID:
41855
Concept ID:
C0014733
Disease or Syndrome
Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.
Myositis disease
MedGen UID:
44564
Concept ID:
C0027121
Disease or Syndrome
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.\n\nThe primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).\n\nThere are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.\n\nPolymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.\n\nPolymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).\n\nIn sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.
Cervical lymphadenopathy
MedGen UID:
66724
Concept ID:
C0235592
Disease or Syndrome
Enlarged lymph nodes in the neck.
Maculopapular exanthema
MedGen UID:
98072
Concept ID:
C0423791
Finding
A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
AA amyloidosis
MedGen UID:
782429
Concept ID:
C3536715
Disease or Syndrome
Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Periorbital edema
MedGen UID:
56223
Concept ID:
C0151205
Pathologic Function
Edema affecting the region situated around the orbit of the eye.
Conjunctival hyperemia
MedGen UID:
315653
Concept ID:
C1761613
Finding
Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTNF receptor-associated periodic fever syndrome (TRAPS)
Follow this link to review classifications for TNF receptor-associated periodic fever syndrome (TRAPS) in Orphanet.

Professional guidelines

PubMed

Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL
Am J Hum Genet 2001 Aug;69(2):301-14. Epub 2001 Jul 6 doi: 10.1086/321976. PMID: 11443543Free PMC Article

Recent clinical studies

Etiology

Hua Y, Wu N, Miao J, Shen M
Front Immunol 2023;14:1091336. Epub 2023 Feb 24 doi: 10.3389/fimmu.2023.1091336. PMID: 36911721Free PMC Article
Jain A, Misra DP, Sharma A, Wakhlu A, Agarwal V, Negi VS
Rheumatol Int 2018 Jan;38(1):13-24. Epub 2017 Oct 14 doi: 10.1007/s00296-017-3839-6. PMID: 29032440

Diagnosis

Zhao M, Luo Y, Wu D, Yang Y, Sun Y, Wang R, Shen M
Rheumatology (Oxford) 2020 Aug 1;59(8):1969-1974. doi: 10.1093/rheumatology/kez569. PMID: 31774538
Jain A, Misra DP, Sharma A, Wakhlu A, Agarwal V, Negi VS
Rheumatol Int 2018 Jan;38(1):13-24. Epub 2017 Oct 14 doi: 10.1007/s00296-017-3839-6. PMID: 29032440

Therapy

Hua Y, Wu N, Miao J, Shen M
Front Immunol 2023;14:1091336. Epub 2023 Feb 24 doi: 10.3389/fimmu.2023.1091336. PMID: 36911721Free PMC Article

Clinical prediction guides

Hua Y, Wu N, Miao J, Shen M
Front Immunol 2023;14:1091336. Epub 2023 Feb 24 doi: 10.3389/fimmu.2023.1091336. PMID: 36911721Free PMC Article
Zhao M, Luo Y, Wu D, Yang Y, Sun Y, Wang R, Shen M
Rheumatology (Oxford) 2020 Aug 1;59(8):1969-1974. doi: 10.1093/rheumatology/kez569. PMID: 31774538
Harrison SR, Scambler T, Oubussad L, Wong C, Wittmann M, McDermott MF, Savic S
Front Immunol 2018;9:173. Epub 2018 Feb 6 doi: 10.3389/fimmu.2018.00173. PMID: 29467762Free PMC Article

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