Abstract: PUB295
Kidney Failure in Familial Mediterranean Fever: Heller Revisited
Session Information
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Author
- Meulen, Jan Van der, Albert Schweitzer Ziekenhuis, Dordrecht, Zuid-Holland, Netherlands
Introduction
In 1955 Heller introduced the term Familial Mediterranean Fever (FMF) for a hereditary syndrome, manifesting itself in infancy or adolescence. The syndrome was already known as periodic disease and found in Jews, Arabs, and Armenians. Heller chose the adjective Mediterranean because 45 of his 74 patients (pts) were Sephardic Jews i.e. coming from Egypt, Libya, Tunis, Algeria and Morocco (SJ). Twenty pts had marked proteinuria and 3 pts died of chronic renal failure (CRF) due to amyloidosis. None of his 74 pts were Ashkenazi Jews i.e. from Central and Eastern Europe (AJ). Heller’s explanation was that AJ have another ethnicity than SJ. A study of 100 Armenians with FMF in California (AC) found no marked proteinuria or amyloidosis. The explanation: AC had different mutations as compared to SJ.
Colchicine, introduced as a prophylactic in 1972, prevents CRF. The pathogenetic gene, the MEFV, was found in 1997. Almost 75% of all FMF pts have the mutants M694V, M694I, V726A and M680I. Homozygosity for M694V is significantly associated with a severe form of FMF and CRF.
Case Description
After the earthquake in 1988, "Doctors without Borders" from the Netherlands set up a hemodialysis (HD) unit in Armenia. Nine pts started HD because of acute renal failure and 47 pts because of CRF. Eleven CRF pts had periodic disease (table). The term FMF and colchicine as prophylactic were unknown in Armenia at that time.
Discussion
The finding that Armenians with FMF in Armenia (AA) develop CRF, suggests that they have similar mutants as SJ. Most likely, the presence of these mutants is due to the fact that SJ and AA have not been exposed to genocide. Whereas at present the highest prevalence of FMF is in the non-Mediterranean part of Turkey and neighbouring Armenia, one may question the adjective “Mediterranean”. However, from a historical point of view, the adjective should remain. It reflects that the Jewish community in these Arabic countries lived in harmony with the Muslims.
Table. Diagnoses of 47 CRF patients starting HD.
| Chronic glomerulonephritis | 13 |
| Periodic disease (Familial Mediterranean Fever) | 11 |
| Chronic pyelonephritis | 6 |
| Analgesics nephropathy | 1 |
| Diabetes mellitus | 1 |
| Amyloidosis due to Ankylosing Spondylitis | 1 |
| Adult polycystic kidney disease | 1 |
| Unknown | 13 |