A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade
Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Rheumatology |
| Online Access: | http://dx.doi.org/10.1155/2018/9670801 |
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| author | Jawad Al-Khafaji Fran Ganz-Lord Venkata Rajesh Konjeti Aaron D. Viny |
| author_facet | Jawad Al-Khafaji Fran Ganz-Lord Venkata Rajesh Konjeti Aaron D. Viny |
| author_sort | Jawad Al-Khafaji |
| collection | DOAJ |
| description | Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals. In this report, we present a patient with late-onset FMF with extensive lymphadenopathy in all of the aforementioned anatomic regions. Genetic analysis identified three heterozygous pyrin mutations in a patient with no affected family members. Genetic investigation of the patient’s mother identified a novel carrier haplotype E148Q/P369S. The proband also inherited the previously described and rare A744S mutation previously not thought to be a disease-defining lesion. This unique compound heterozygous genotype resulted in a novel genotype-phenotype association producing an atypical clinical presentation of FMF that fits within the pattern of several case reports of late-onset disease with respect to clinical course and therapeutic response. |
| format | Article |
| id | doaj-art-35f61cae17cf4dbfb9e7406fc5a5f7e7 |
| institution | Kabale University |
| issn | 2090-6889 2090-6897 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Rheumatology |
| spelling | doaj-art-35f61cae17cf4dbfb9e7406fc5a5f7e72025-02-03T01:23:41ZengWileyCase Reports in Rheumatology2090-68892090-68972018-01-01201810.1155/2018/96708019670801A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth DecadeJawad Al-Khafaji0Fran Ganz-Lord1Venkata Rajesh Konjeti2Aaron D. Viny3Department of Medicine, Virginia Commonwealth University Health System, Richmond, VA 23298, USACareMount Medical, Chappaqua, NY 10514, USADepartment of Medicine, Virginia Commonwealth University Health System, Richmond, VA 23298, USAHuman Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USAFamilial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals. In this report, we present a patient with late-onset FMF with extensive lymphadenopathy in all of the aforementioned anatomic regions. Genetic analysis identified three heterozygous pyrin mutations in a patient with no affected family members. Genetic investigation of the patient’s mother identified a novel carrier haplotype E148Q/P369S. The proband also inherited the previously described and rare A744S mutation previously not thought to be a disease-defining lesion. This unique compound heterozygous genotype resulted in a novel genotype-phenotype association producing an atypical clinical presentation of FMF that fits within the pattern of several case reports of late-onset disease with respect to clinical course and therapeutic response.http://dx.doi.org/10.1155/2018/9670801 |
| spellingShingle | Jawad Al-Khafaji Fran Ganz-Lord Venkata Rajesh Konjeti Aaron D. Viny A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade Case Reports in Rheumatology |
| title | A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade |
| title_full | A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade |
| title_fullStr | A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade |
| title_full_unstemmed | A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade |
| title_short | A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade |
| title_sort | case of familial mediterranean fever with extensive lymphadenopathy and complex heterozygous genotype presenting in the fourth decade |
| url | http://dx.doi.org/10.1155/2018/9670801 |
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