Hyperferritinemia Cataract Syndrome

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Classification according to ICD-10
H26.0 Infantile, juvenile, and presenile cataracts
ICD-10 online (WHO version 2019)

The hyperferritinemia cataract syndrome is a very rare congenital disease with a combination of elevated ferritin in blood serum (hyperferritinemia without iron overload ) and cataracts .

Synonyms are: hyperferritinemia, hereditary, with congenital cataract; HHCS; Bonneau-Beaumont Syndrome

The first description comes from June 1995 by the French human geneticists Dominique Bonneau, Isabelle Winter-Fuseau, Carole Beaumont and colleagues.

In August of that year, a report by Domenico Girelli and colleagues was published (independently).

distribution

The frequency is given as at least 1 in 200,000, inheritance is autosomal dominant .

root cause

Of the disease are mutations in the FTL - gene on chromosome 19 locus q13.33 based, which for the ferritin light chain member of Eisenspeicher- protein ferritin coded.

Apparently the increased ferritin is mainly deposited in the eye lenses.

Mutations in this gene are also the basis for neuroferritinopathy .

Clinical manifestations

Clinical criteria are:

  • Manifestation in all age groups through premature clouding of the lens of the eye (cataract) usually between the 2nd and 4th decades of life
  • The severity of the syndrome is very variable, sometimes carriers of this mutation remain completely symptom-free

diagnosis

The diagnosis results from the combination of clinical and laboratory findings.

Differential diagnosis

Hemochromatosis type 4 is to be differentiated

therapy

Treatment is limited to the cataract.

literature

  • G. Millonig, M. Holzer, G. Tolle, G. Auffarth, M. Muckenthaler, H. Seitz, S. Mueller: The hereditary hyperferritinemia-cataract syndrome - the first family in Germany. In: Journal of Gastroenterology. 47, 2009, p. 1211, doi: 10.1055 / s-0028-1109523
  • B. Balta, M. Erdoğan, A. Kiraz, S. Korkmaz, A. Ağadayı: Frequent Mutation in the Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A> G In: Turkish journal of haematology: official journal of Turkish Society of Hematology. Volume 36, number 1, 02 2019, pp. 25-28, doi: 10.4274 / tjh.galenos.2018.2018.0194 , PMID 30401656 , PMC 6373503 (free full text).
  • RC Petroni, SE Rosa, FP Carvalho, RA Santana, JE Hyppolito, CM Nascimento, N. Hamerschlak, PV Campregher: Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome. In: Einstein. Volume 15, number 4, 2017 Oct-Dec, pp. 492-495, doi: 10.1590 / S1679-45082017RC4006 , PMID 28746593 , PMC 5875167 (free full text).
  • S. Yazar, M. Franchina, JE Craig, KP Burdon, DA Mackey: Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. In: Ophthalmic genetics. Volume 38, number 2, 2017 Mar-Apr, pp. 171-174, doi: 10.3109 / 13816810.2016.1164195 , PMID 27096259 .

Individual evidence

  1. ↑ a b c Hereditary hyperferritinemia-cataract syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ D. Bonneau, I. Winter-Fuseau, MN Loiseau, P. Amati, M. Berthier, D. Oriot, C. Beaumont: Bilateral cataract and high serum ferritin: a new dominant genetic disorder? In: Journal of Medical Genetics . Volume 32, number 10, October 1995, pp. 778-779, doi: 10.1136 / jmg.32.10.778 , PMID 8558554 , PMC 1051699 (free full text).
  3. ↑ D. Girelli, O. Olivieri, L. De Franceschi, R. Corrocher, G. Bergamaschi, M. Cazzola: A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. In: British Journal of Hematology . Volume 90, Number 4, August 1995, pp. 931-934, doi: 10.1111 / j.1365-2141.1995.tb05218.x , PMID 7669675 .
  4. ↑ Hyperferritinemia cataract syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ FTL.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ H. Holzgreve: The hereditary hyperferritinemia-cataract syndrome. In: DMW - German Medical Weekly. 136, 2011, p. 1895, doi: 10.1055 / s-0031-1286359
  7. ^ Rare Diseases
  8. ↑ Hemochromatosis type 4. In: Orphanet (database for rare diseases).

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