Familial mediterranean fever natural history, complications and prognosis: Difference between revisions
Jump to navigation
Jump to search
| (8 intermediate revisions by the same user not shown) | |||
| Line 4: | Line 4: | ||
==Overview== | ==Overview== | ||
Common complications of familial Mediterranean fever include amyloidosis and increased risk of | Common [[complications]] of [[familial Mediterranean fever]] include [[amyloidosis]] and increased risk of vasculitic [[disorders]]. The [[prognosis]] does not differ from that of the general population. However, [[renal]] involvement is the determinant factor of patient [[survival rate]]. | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
===Natural History=== | ===Natural History=== | ||
*The symptoms of familial Mediterranean fever usually develop in the first two decades of life and start with symptoms such as fever and serositis.<ref name="pmid5340644">{{cite journal |vauthors=Sohar E, Gafni J, Pras M, Heller H |title=Familial Mediterranean fever. A survey of 470 cases and review of the literature |journal=Am. J. Med. |volume=43 |issue=2 |pages=227–53 |date=August 1967 |pmid=5340644 |doi= |url=}}</ref> | *The [[symptoms]] of [[Familial mediterranean fever|familial Mediterranean fever]] usually develop in the first two decades of life and start with [[symptoms]] such as [[fever]] and [[serositis]].<ref name="pmid5340644">{{cite journal |vauthors=Sohar E, Gafni J, Pras M, Heller H |title=Familial Mediterranean fever. A survey of 470 cases and review of the literature |journal=Am. J. Med. |volume=43 |issue=2 |pages=227–53 |date=August 1967 |pmid=5340644 |doi= |url=}}</ref> | ||
Serositis may | *[[Serositis]] manifests with [[abdominal pain]], and/or [[chest pain]], [[arthralgia]] and/or [[arthritis]] of the hip, knee or ankle, and erysiplas-like erythema, frequently on the lower limbs.<ref name="pmid16755655">{{cite journal |vauthors=Lidar M, Yaqubov M, Zaks N, Ben-Horin S, Langevitz P, Livneh A |title=The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever |journal=J. Rheumatol. |volume=33 |issue=6 |pages=1089–92 |date=June 2006 |pmid=16755655 |doi= |url=}}</ref> | ||
*If left untreated, 75% of patients with familial Mediterranean fever may progress to develop amyloidosis.<ref name="pmid5715490">{{cite journal |vauthors=Gafni J, Ravid M, Sohar E |title=The role of amyloidosis in familial mediterranean fever. A population study |journal=Isr. J. Med. Sci. |volume=4 |issue=5 |pages=995–9 |date=1968 |pmid=5715490 |doi= |url=}}</ref> | *[[Fever]] episodes may last 1 to 3 days. | ||
*Patients usually manifest minimal [[symptoms]] in between the attacks. | |||
*Even i the same [[patient]], clinical presentation may vary over time. | |||
*If left untreated, 75% of patients with [[Familial mediterranean fever|familial Mediterranean fever]] may progress to develop [[amyloidosis]].<ref name="pmid5715490">{{cite journal |vauthors=Gafni J, Ravid M, Sohar E |title=The role of amyloidosis in familial mediterranean fever. A population study |journal=Isr. J. Med. Sci. |volume=4 |issue=5 |pages=995–9 |date=1968 |pmid=5715490 |doi= |url=}}</ref> | |||
==Complications== | ==Complications== | ||
The most devastating complication of FMF is the development of AA-amyloidosis which may lead to end-stage renal disease.<ref name="pmid22543627">{{cite journal |vauthors=Akar S, Yuksel F, Tunca M, Soysal O, Solmaz D, Gerdan V, Celik A, Sen G, Onen F, Akkoc N |title=Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era |journal=Medicine (Baltimore) |volume=91 |issue=3 |pages=131–6 |date=May 2012 |pmid=22543627 |doi=10.1097/MD.0b013e3182561a45 |url=}}</ref><ref name="Lachmann2015">{{cite journal|last1=Lachmann|first1=Helen J.|title=Long-Term Complications of Familial Mediterranean Fever|volume=3|year=2015|pages=91–105|issn=2282-6505|doi=10.1007/978-3-319-14615-7_6}}</ref> | The most devastating [[complication]] of [[Familial mediterranean fever|FMF]] is the development of [[AA amyloidosis|AA-amyloidosis]] which may lead to [[end-stage renal disease]].<ref name="pmid22543627">{{cite journal |vauthors=Akar S, Yuksel F, Tunca M, Soysal O, Solmaz D, Gerdan V, Celik A, Sen G, Onen F, Akkoc N |title=Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era |journal=Medicine (Baltimore) |volume=91 |issue=3 |pages=131–6 |date=May 2012 |pmid=22543627 |doi=10.1097/MD.0b013e3182561a45 |url=}}</ref><ref name="Lachmann2015">{{cite journal|last1=Lachmann|first1=Helen J.|title=Long-Term Complications of Familial Mediterranean Fever|volume=3|year=2015|pages=91–105|issn=2282-6505|doi=10.1007/978-3-319-14615-7_6}}</ref> | ||
*The development of amyloidosis has been associated with the following factors: | *The development of [[amyloidosis]] has been associated with the following factors: | ||
**Particular MEFV mutations (M694V, M694I, or M680I) | **Particular [[MEFV]] [[mutations]] (M694V, M694I, or M680I) | ||
**Family history of amyloidosis | **[[Family history]] of [[amyloidosis]] | ||
**Male sex | **Male sex | ||
FMF may also be complicated with non-amyloid kidney disease such as:<ref name="pmid24128782">{{cite journal |vauthors=Kukuy O, Livneh A, Ben-David A, Kopolovic J, Volkov A, Shinar Y, Holtzman E, Dinour D, Ben-Zvi I |title=Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients |journal=J. Rheumatol. |volume=40 |issue=12 |pages=2083–7 |date=December 2013 |pmid=24128782 |doi=10.3899/jrheum.130520 |url=}}</ref> | [[Familial mediterranean fever|FMF]] may also be [[Complications|complicated]] with non-amyloid [[kidney disease]] such as:<ref name="pmid24128782">{{cite journal |vauthors=Kukuy O, Livneh A, Ben-David A, Kopolovic J, Volkov A, Shinar Y, Holtzman E, Dinour D, Ben-Zvi I |title=Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients |journal=J. Rheumatol. |volume=40 |issue=12 |pages=2083–7 |date=December 2013 |pmid=24128782 |doi=10.3899/jrheum.130520 |url=}}</ref><ref>{{cite journal |vauthors=Ardalan M, Nasri H |title=Massive proteinuria and acute glomerulonephritis picture in a patient with Familial Mediterranean fever and E148Q mutation |journal=Iran J Kidney Dis |volume=8 |issue=6 |pages=486–8 |date=November 2014 |pmid=25362225 |doi= |url=}}</ref> | ||
*Nephrotic syndrome | *[[Nephrotic syndrome]] | ||
*Focal segmental glomerular sclerosis | *[[Focal segmental glomerulosclerosis|Focal segmental glomerular sclerosis]] | ||
*IgA nephropathy | *[[IgA nephropathy]]<ref name="RiganteFederico2005">{{cite journal|last1=Rigante|first1=Donato|last2=Federico|first2=Gilda|last3=Ferrara|first3=Pietro|last4=Maggiano|first4=Nicola|last5=Avallone|first5=Laura|last6=Pugliese|first6=Anna Lisa|last7=Stabile|first7=Achille|title=IgA nephropathy in an Italian child with familial Mediterranean fever|journal=Pediatric Nephrology|volume=20|issue=11|year=2005|pages=1642–1644|issn=0931-041X|doi=10.1007/s00467-005-2023-5}}</ref> | ||
*Minimal change disease | *[[Minimal change disease]] | ||
*[[mesangial proliferative glomerulonephritis]]<ref name="CagdasGucer2005">{{cite journal|last1=Cagdas|first1=Deniz N.|last2=Gucer|first2=Safak|last3=Kale|first3=Gülsev|last4=Duzova|first4=Ali|last5=Ozen|first5=Seza|title=Familial Mediterranean fever and mesangial proliferative glomerulonephritis: report of a case and review of the literature|journal=Pediatric Nephrology|volume=20|issue=9|year=2005|pages=1352–1354|issn=0931-041X|doi=10.1007/s00467-005-1991-9}}</ref> | |||
Other [[complications]] of [[FMF]] include: | |||
*Emergency [[surgery]] (usually due to confusion with an [[acute abdomen]] of other cause).<ref name="pmid19820675">{{cite journal |vauthors=Samli H, Içduygu FM, Ozgöz A, Akbulut G, Hekimler K, Imirzalioglu N |title=Surgery for acute abdomen and MEFV mutations in patients with FMF |journal=Acta Reumatol Port |volume=34 |issue=3 |pages=520–4 |date=2009 |pmid=19820675 |doi= |url=}}</ref> | |||
*Band [[adhesion]] which may lead to [[bowel obstruction]], [[pelvic pain]], and reduced [[fertility]].<ref name="pmid7595838">{{cite journal |vauthors=Ciftci AO, Tanyel FC, Büyükpamukçu N, Hiçsönmez A |title=Adhesive small bowel obstruction caused by familial Mediterranean fever: the incidence and outcome |journal=J. Pediatr. Surg. |volume=30 |issue=4 |pages=577–9 |date=April 1995 |pmid=7595838 |doi= |url=}}</ref> | |||
*[[Arthritis]]<ref name="MoradianSarkisian2013">{{cite journal|last1=Moradian|first1=Mike M.|last2=Sarkisian|first2=Tamara|last3=Amaryan|first3=Gayane|last4=Hayrapetyan|first4=Hasmik|last5=Yeghiazaryan|first5=Anna|last6=Davidian|first6=Nairi|last7=Avanesian|first7=Nare|title=Patient management and the association of less common familial Mediterranean fever symptoms with other disorders|journal=Genetics in Medicine|volume=16|issue=3|year=2013|pages=258–263|issn=1098-3600|doi=10.1038/gim.2013.112}}</ref> | |||
==Prognosis== | ==Prognosis== | ||
*Prognosis | *[[Prognosis]] is generally excellent. However, amyloid [[renal]] involvement is the determinant factor of [[patient]] [[survival rate]].<ref name="pmid22543627">{{cite journal |vauthors=Akar S, Yuksel F, Tunca M, Soysal O, Solmaz D, Gerdan V, Celik A, Sen G, Onen F, Akkoc N |title=Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era |journal=Medicine (Baltimore) |volume=91 |issue=3 |pages=131–6 |date=May 2012 |pmid=22543627 |doi=10.1097/MD.0b013e3182561a45 |url=}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 20:14, 3 June 2019
|
Familial Mediterranean Fever Microchapters |
|
Differentiating Familial Mediterranean Fever from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Familial mediterranean fever natural history, complications and prognosis On the Web |
|
American Roentgen Ray Society Images of Familial mediterranean fever natural history, complications and prognosis |
|
FDA on Familial mediterranean fever natural history, complications and prognosis |
|
CDC on Familial mediterranean fever natural history, complications and prognosis |
|
Familial mediterranean fever natural history, complications and prognosis in the news |
|
Blogs on Familial mediterranean fever natural history, complications and prognosis |
|
Directions to Hospitals Treating Familial mediterranean fever |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Common complications of familial Mediterranean fever include amyloidosis and increased risk of vasculitic disorders. The prognosis does not differ from that of the general population. However, renal involvement is the determinant factor of patient survival rate.
Natural History, Complications, and Prognosis
Natural History
- The symptoms of familial Mediterranean fever usually develop in the first two decades of life and start with symptoms such as fever and serositis.[1]
- Serositis manifests with abdominal pain, and/or chest pain, arthralgia and/or arthritis of the hip, knee or ankle, and erysiplas-like erythema, frequently on the lower limbs.[2]
- Fever episodes may last 1 to 3 days.
- Patients usually manifest minimal symptoms in between the attacks.
- Even i the same patient, clinical presentation may vary over time.
- If left untreated, 75% of patients with familial Mediterranean fever may progress to develop amyloidosis.[3]
Complications
The most devastating complication of FMF is the development of AA-amyloidosis which may lead to end-stage renal disease.[4][5]
- The development of amyloidosis has been associated with the following factors:
- Particular MEFV mutations (M694V, M694I, or M680I)
- Family history of amyloidosis
- Male sex
FMF may also be complicated with non-amyloid kidney disease such as:[6][7]
- Nephrotic syndrome
- Focal segmental glomerular sclerosis
- IgA nephropathy[8]
- Minimal change disease
- mesangial proliferative glomerulonephritis[9]
Other complications of FMF include:
- Emergency surgery (usually due to confusion with an acute abdomen of other cause).[10]
- Band adhesion which may lead to bowel obstruction, pelvic pain, and reduced fertility.[11]
- Arthritis[12]
Prognosis
- Prognosis is generally excellent. However, amyloid renal involvement is the determinant factor of patient survival rate.[4]
References
- ↑ Sohar E, Gafni J, Pras M, Heller H (August 1967). "Familial Mediterranean fever. A survey of 470 cases and review of the literature". Am. J. Med. 43 (2): 227–53. PMID 5340644.
- ↑ Lidar M, Yaqubov M, Zaks N, Ben-Horin S, Langevitz P, Livneh A (June 2006). "The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever". J. Rheumatol. 33 (6): 1089–92. PMID 16755655.
- ↑ Gafni J, Ravid M, Sohar E (1968). "The role of amyloidosis in familial mediterranean fever. A population study". Isr. J. Med. Sci. 4 (5): 995–9. PMID 5715490.
- ↑ 4.0 4.1 Akar S, Yuksel F, Tunca M, Soysal O, Solmaz D, Gerdan V, Celik A, Sen G, Onen F, Akkoc N (May 2012). "Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era". Medicine (Baltimore). 91 (3): 131–6. doi:10.1097/MD.0b013e3182561a45. PMID 22543627.
- ↑ Lachmann, Helen J. (2015). "Long-Term Complications of Familial Mediterranean Fever". 3: 91–105. doi:10.1007/978-3-319-14615-7_6. ISSN 2282-6505.
- ↑ Kukuy O, Livneh A, Ben-David A, Kopolovic J, Volkov A, Shinar Y, Holtzman E, Dinour D, Ben-Zvi I (December 2013). "Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients". J. Rheumatol. 40 (12): 2083–7. doi:10.3899/jrheum.130520. PMID 24128782.
- ↑ Ardalan M, Nasri H (November 2014). "Massive proteinuria and acute glomerulonephritis picture in a patient with Familial Mediterranean fever and E148Q mutation". Iran J Kidney Dis. 8 (6): 486–8. PMID 25362225.
- ↑ Rigante, Donato; Federico, Gilda; Ferrara, Pietro; Maggiano, Nicola; Avallone, Laura; Pugliese, Anna Lisa; Stabile, Achille (2005). "IgA nephropathy in an Italian child with familial Mediterranean fever". Pediatric Nephrology. 20 (11): 1642–1644. doi:10.1007/s00467-005-2023-5. ISSN 0931-041X.
- ↑ Cagdas, Deniz N.; Gucer, Safak; Kale, Gülsev; Duzova, Ali; Ozen, Seza (2005). "Familial Mediterranean fever and mesangial proliferative glomerulonephritis: report of a case and review of the literature". Pediatric Nephrology. 20 (9): 1352–1354. doi:10.1007/s00467-005-1991-9. ISSN 0931-041X.
- ↑ Samli H, Içduygu FM, Ozgöz A, Akbulut G, Hekimler K, Imirzalioglu N (2009). "Surgery for acute abdomen and MEFV mutations in patients with FMF". Acta Reumatol Port. 34 (3): 520–4. PMID 19820675.
- ↑ Ciftci AO, Tanyel FC, Büyükpamukçu N, Hiçsönmez A (April 1995). "Adhesive small bowel obstruction caused by familial Mediterranean fever: the incidence and outcome". J. Pediatr. Surg. 30 (4): 577–9. PMID 7595838.
- ↑ Moradian, Mike M.; Sarkisian, Tamara; Amaryan, Gayane; Hayrapetyan, Hasmik; Yeghiazaryan, Anna; Davidian, Nairi; Avanesian, Nare (2013). "Patient management and the association of less common familial Mediterranean fever symptoms with other disorders". Genetics in Medicine. 16 (3): 258–263. doi:10.1038/gim.2013.112. ISSN 1098-3600.