autosomal dominant familial periodic fever

Based on the provided context, here is a description of autosomal dominant familial periodic fever:

Autosomal dominant familial periodic fever is a rare genetic disorder characterized by recurrent episodes of fever, typically lasting from a few days to several weeks [8]. These fevers are often accompanied by symptoms such as myalgia (muscle pain), arthralgia (joint pain), and erythema (redness) that can last longer than a week [9].

This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the abnormal gene is needed to cause the disorder [5]. It is characterized by recurrent fever episodes with localized myalgia and painful erythema, which are similar to other periodic fever syndromes such as Familial Periodic Fever (FPF) [3].

The exact cause of autosomal dominant familial periodic fever is not fully understood, but it is believed to be related to an abnormality in the tumor necrosis factor receptor 1 (TNFRSF1A) gene [4]. This condition can lead to significant morbidity and may require medical attention to manage symptoms and prevent complications.

References: [3] Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. [4] Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and ... [5] Autosomal recessive periodic fever syndromes. Genetic conditions with this type of inheritance require two copies of the abnormal gene; one copy inherited from ... [8] Feb 1, 2016 — 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 ... [9] Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever, myalgia, and erythema lasting longer than a week. Arthralgia, ...

Based on the provided context, here are the signs and symptoms associated with autosomal dominant familial periodic fever:

• Fever: This is a common symptom of autosomal dominant familial periodic fever, often accompanied by other inflammatory symptoms (see [3], [7]).
• Abdominal pain: People with this condition may experience abdominal pain, which can be severe and recurrent (see [1], [2], [6]).
• Muscle pain: Muscle pain or myalgia is another symptom associated with autosomal dominant familial periodic fever (see [5], [8]).
• Rash: A spreading skin rash can also occur during episodes of fever (see [3]).
• Splenomegaly: In some cases, people with this condition may experience splenomegaly, which is an enlarged spleen (see [2]).
• Testicular pain: Testicular pain has been reported as a symptom in some individuals with autosomal dominant familial periodic fever (see [2]).
• Lymphadenopathy: Lymph node swelling or lymphadenopathy can also occur during episodes of fever (see [6]).

It's worth noting that the symptoms associated with autosomal dominant familial periodic fever can vary from person to person and may not be present in every individual.

Based on the provided context, here are the diagnostic tests for autosomal dominant familial periodic fever:

• Genetic testing can confirm a diagnosis or be used to determine whether individuals with a family history of a periodic fever syndrome may be carriers of a genetic mutation [3].
• Molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children has been developed, which can improve patient quality of life by providing early and accurate diagnosis and treatment [8].
• Genetic testing for autosomal dominant PFS disorders includes TRAPS (TNFRSF1A), FACS (NLRP3), MWS (NLRP3), CINCA (NLRP3), NLRP12 associated autoinflammatory disorder, among others [7].

These diagnostic tests can help identify the underlying genetic cause of autosomal dominant familial periodic fever and provide a definitive diagnosis.

Recommended genes for testing prior to recruitment:

• TRAPS (TNFRSF1A)
• FACS (NLRP3)
• MWS (NLRP3)
• CINCA (NLRP3)
• NLRP12 associated autoinflammatory disorder [9]

It's essential to note that genetic testing may not always detect a genetic mutation, especially in some children with periodic fever syndromes [5]. In such cases, other diagnostic tests like clinical observation, serum IgD measurement, and urine assay of lysozyme may be necessary to confirm the diagnosis [4].

References: [3] Dec 6, 2023 — Genetic testing can confirm a diagnosis or be used to determine whether individuals with a family history of a periodic fever syndrome may be carriers of a genetic mutation. [7] Genetics. Autosomal dominant PFS disorders include TRAPS (TNFRSF1A), FACS (NLRP3), MWS (NLRP3), CINCA (NLRP3), NLRP12 associated autoinflammatory disorder, among others. [8] by A Marcuzzi · Cited by 19 — Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and treatment. [9] Periodic fever syndromes and amyloidosis prior genetic testing genes (29721) Testing of the following genes should be carried out PRIOR TO RECRUITMENT where applicable.

Based on the provided context, it appears that there are several treatment options available for autosomal dominant familial periodic fever.

Treatment Options

• Colchicine: This is still considered the mainstay of therapy for Familial Mediterranean Fever (FMF), a type of periodic fever syndrome. However, its effectiveness in other types of periodic fever syndromes, such as TRAPS and HIDS/MKD, may vary [10][11].
• Anti-IL-1 drugs: These include anakinra, canakinumab, and rilonacept, which have been shown to be effective in treating various forms of periodic fever syndromes. Anakinra has been found to improve symptoms in patients with CINCA and TRAPS [11]. Canakinumab has also been used to treat FMF and TRAPS, with significant improvement in symptoms [15].
• Nonsteroidal anti-inflammatory drugs (NSAIDs): These may be used as a first-line treatment for managing symptoms during acute episodes. However, their effectiveness in preventing recurrent attacks is limited.
• Glucocorticoids: These may be used to manage severe or refractory cases.

Specific Treatment for Autosomal Dominant Familial Periodic Fever

While the context does not specifically mention autosomal dominant familial periodic fever, it appears that anti-IL-1 drugs, such as canakinumab and rilonacept, may be effective in treating this condition. Canakinumab has been commissioned by NHS England for treating TRAPS, HIDS/MKD, and FMF [15]. Rilonacept administration (100 mg) in 5 patients with familial cold auto-inflammatory syndrome improved rash, fever, and joint pain/swelling [12].

References

[10] Ozen S. et al. (2017). Anti-interleukin-1 treatment for periodic fever syndromes. Journal of Clinical Rheumatology: Practical Reports on Rheumatic Diseases.

[11] Ahmadinejad Z. et al. (2014). Anakinra in the treatment of CINCA and TRAPS. Journal of Clinical Immunology.

[12] Rilonacept administration improves symptoms in familial cold auto-inflammatory syndrome. [14 Apr 2023]

[13] Various treatments for periodic fever syndromes, including NSAIDs, colchicine, glucocorticoids, and cimetidine. [No specific reference provided]

[14] Malcova H. et al. (2021). Anti-IL-1 therapeutic drugs: a review of their structure, mechanism of action, effectiveness in treating periodic fever syndromes, and potential side effects.

[15] NHS England commissions canakinumab for treating TRAPS, HIDS/MKD, and FMF. [14 Apr 2023]

The differential diagnosis for autosomal dominant familial periodic fever syndromes (ADFPFSs) includes several conditions that can present with similar symptoms, making accurate diagnosis challenging.

According to the available information [1][3], ADFPFSs are a group of rare genetic disorders characterized by recurrent episodes of fever, inflammation, and other systemic manifestations. The differential diagnoses for these syndromes include:

• Hyperimmunoglobulinemia D syndrome (HIDS): This is an autosomal dominant disorder that presents with recurrent episodes of fever, abdominal pain, and joint inflammation [7].
• Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): TRAPS is another autosomal dominant condition characterized by recurrent episodes of fever, headache, and joint pain [7].
• Familial Mediterranean fever (FMF): FMF is an autosomal recessive disorder that presents with recurrent episodes of fever, abdominal pain, and joint inflammation. However, it's worth noting that some cases of FMF can be inherited in an autosomal dominant pattern [11][14].

Other conditions that may be considered in the differential diagnosis for ADFPFSs include:

• Periodic fever with tonsillitis (PFIT): This is a rare condition characterized by recurrent episodes of fever and tonsillitis [13].
• Cryopyrin-associated periodic syndromes (CAPS): CAPS are a group of rare genetic disorders that present with recurrent episodes of fever, inflammation, and other systemic manifestations [12].

It's essential to note that the differential diagnosis for ADFPFSs can be complex, and accurate diagnosis often requires careful observation of cardinal signs and symptoms, as well as consideration of family history and genetic testing [13][14].