Periodic disease (or Armenian disease , or hereditary familial amyloidosis without neuropathy , or Mediterranean familial fever , other names: paroxysmal Dzheynuei-Mozental syndrome, periodic peritonitis, Reimann syndrome, Seagal-Mamu disease) - a relatively rare, genetically caused hereditary disease, manifested periodically recurrent serositis and the relatively frequent development of amyloidosis . It occurs mainly among representatives of nationalities whose ancestors lived in countries on the territory of the Mediterranean basin (regardless of their current place of residence), especially among Armenians , Jews (most often Sephardic ), and only 6% of cases with persons of other nationalities. [2] [3]
| Hereditary familial amyloidosis without neuropathy | |
|---|---|
| ICD-10 | E 85.0 |
| ICD-10-KM | |
| ICD-9 | 277.3 |
| ICD-9-KM | |
| Omim | 249100 |
| Diseasesdb | |
| Medlineplus | |
| eMedicine | med / 1410 |
| Mesh | D010505 |
Content
Etiology
A periodic disease is a genetically caused disease, it is based on a mutation in the exons of the MEFV gene located in the short arm of chromosome 16. At the moment, at least 73 variants of mutation have been recorded [2] .
Forms of the disease
- abdominal (abdominal pain - the most common manifestations of this pathology);
- vascular;
- articular;
- pleural;
- meningial;
- mixed.
Clinical manifestations
The debut of the disease in 80% of cases falls under the age of 20 years.
- episodes of fever up to 40 ° C and higher lasting, as a rule, 12–72 hours (observed in 100% of patients)
- the interval between attacks is 3-4 weeks;
- aseptic peritonitis - acute abdominal pain (82–98%);
- pleurisy - acute pain in the chest (30%);
- pericarditis (<1%);
- arthritis , as a rule, monoarthritis of the knee with a significant effusion (75%);
- erisipeloid-like (erysipelas) rash on the legs and feet;
- neurological symptoms (headache, photophobia , lacrimation, sleep disturbance, noise in the head and ears)
- swelling and soreness of the scrotum in young men [4] .
Clinical manifestations can be triggered by climatic factors, alcohol intake, infections, alimentary poisoning. Seasonality of manifestation depends on the region. For Russia, this is the off-season spring-summer and summer-autumn.
Complications
The main complication of a recurring disease is AA amyloidosis, usually localized in the kidneys. Amyloidosis of the gastrointestinal tract , liver , spleen , and, less often, the heart, testes, and thyroid gland can sometimes be noted.
A rare complication is adhesive disease, developing as a result of periodically recurring peritonitis [4] .
Diagnostics
Careful collection of the family history is very important, special attention should be paid to the presence of periodic fevers in relatives and cases of death from renal failure in the family. The ethnicity of the patient should also be taken into account.
Molecular genetic typing is not an absolutely accurate diagnostic method in this case, since not all types of mutations in which this disease develops are known. In addition, only the most common mutations are available for most laboratories to determine.
The main criteria used in the world are Tel Hashomer criteria , but they are adapted for populations with a high frequency.
| Great criteria | Typical attacks: 1. Peritonitis (generalized) 2. Pleurisy (unilateral) or pericarditis 3. Monoarthritis (knee, hip, ankle joints) |
| Small criteria | 1-3. Incomplete attack involving ≥1 of the following locations: 1. Belly 2. Chest 3. Joint 4. Exercise leg pain 5. A good response to colchicine therapy |
| Supporting Criteria | 1. Family history of FMF 2. Belonging to the appropriate ethnic group 3. Age of onset of the disease is up to 20 years 4-7. Attack Characteristic:
10. Parental marriage |
To make a diagnosis, it is necessary to meet ≥1 large criteria, or ≥2 small criteria, or 1 large + ≥5 supporting criteria, or 1 small + ≥4 supporting criteria from the first 5 [4] .
Treatment
The basis of treatment is colchicine , it significantly reduces the risk of developing amyloidosis. When taking colchicine, bone marrow and liver functions may be impaired. In this regard, in the course of treatment with colchicine, it is important to monitor the indicators of the clinical blood test, as well as the parameters of the liver function ( ALT , AST )
Symptomatic treatment is used during attacks with non-steroidal anti-inflammatory drugs . [four]
In Culture
- In episode 6 of season 5 of the Doctor House television series, patients (father and daughter) nearly died due to Mediterranean family fever, which caused anhedonia and somnambulism .
- Hereditary Mediterranean fever is mentioned in the 1st episode of the 3rd season of the television series Clinic as a rare disease that is difficult to diagnose. In addition, this disease is mentioned in episode 12 of season 2, when Dr. Cox recalled that hypochondriac Corman recalled that on the previous visit the patient stated that he had symptoms of this disease.
See also
- Amyloidosis
Notes
- ↑ Disease Ontology release 2019-05-13 - 2019-05-13 - 2019.
- ↑ 1 2 PERIODIC DISEASE. Medical inquiry (Inaccessible link) . Date of treatment February 22, 2010. Archived February 18, 2010.
- ↑ V.V. Petrovsky : Big Medical Encyclopedia, Sovetskaya Encyclopedia Publishing House, Third Edition, Volume 19, p. 67, pillar 181, Moscow , 1982
- ↑ 1 2 3 4 E.S. Fedorov, S.O. Salugina, N.N. Kuzmina. Family Mediterranean fever (periodic disease): a modern view of the problem // MODERN RHEUMATOLOGY. - No. 1'13 . - S. 29 .