← Back to guidelines
Cardiology251 papers

Mediterranean macrothrombocytopenia

Last edited: 4/14/2026

Overview

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder characterized by recurrent episodes of fever and serositis, often involving the abdomen, chest, and joints. It is most prevalent in populations of Mediterranean and Middle Eastern descent 16.

Diagnosis

  • Key Diagnostic Criteria: Recurrent fevers, serositis (abdominal, pleural, pericardial pain), arthritis, and erysipelas-like skin lesions 13.
  • Recommended Tests: Genetic testing for MEFV gene mutations is definitive 113.
  • Grading: Severity can be assessed using objective criteria reflecting suffering and disability, categorized into mild, intermediate, and severe levels 10.
  • Management

  • First-Line Treatment: Colchicine is the mainstay of therapy, typically dosed at 1-2 mg/day in adults, adjusted for efficacy and tolerability 129.
  • Adjunctive Treatments:
  • - IL-1 Inhibitors: Used in colchicine-resistant or intolerant patients (e.g., anakinra, canakinumab) 17. - Tonsillectomy: May reduce disease severity in patients with chronic tonsillitis 2. - Vitamin D Supplementation: Considered in cases of deficiency, though evidence is moderate 48.

    Special Populations

  • Pediatrics: Large pediatric cohorts show frequent inflammatory comorbidities; management similar to adults but with close monitoring 3.
  • Comorbidities:
  • - Oxidative Stress and Inflammation: Evaluate vitamin D status and consider supplementation 48. - Helicobacter pylori: Distinguish from FMF attacks; consider eradication therapy if present 5.
  • Elderly: Specific management considerations not extensively covered in abstracts; general principles apply with caution 10.
  • Key Recommendations

  • Genetic Testing for Diagnosis: Utilize MEFV gene mutation testing for definitive diagnosis of FMF (Evidence: Strong 13).
  • Colchicine as First-Line Therapy: Initiate colchicine therapy at 1-2 mg/day for FMF management (Evidence: Strong 12).
  • Consider IL-1 Inhibitors for Refractory Cases: Use IL-1 inhibitors in patients who are colchicine-resistant or intolerant (Evidence: Moderate 17).
  • Evaluate and Manage Vitamin D Deficiency: Assess vitamin D levels and consider supplementation in deficient FMF patients (Evidence: Moderate 48).
  • Consider Tonsillectomy in Chronic Tonsillitis: Evaluate tonsillectomy for FMF patients with chronic tonsillitis to potentially reduce disease severity (Evidence: Moderate 2).
  • References

    1 Uzun Bektaş A, Bora B, Ünsal E. Comparative evaluation of ChatGPT and LLaMA for reliability, quality, and accuracy in familial Mediterranean fever. European journal of pediatrics 2025. link 2 Ibrahim AA, Alsayed AA, Mahmoud MA, Attalla Hassan AH, Hamdan AM. The effect of tonsillectomy on clinical manifestations in Familial Mediterranean fever. International journal of pediatric otorhinolaryngology 2025. link 3 Ozdel S, Coşkuner T, Demirkan F, Torun R, Aydın EA, Bağlan E et al.. Inflammatory comorbidities ın the largest pediatric Familial Mediterranean fever cohort: a multicenter retrospective study of Pediatric Rheumatology Academy (PeRA)-Research Group (RG). Clinical rheumatology 2024. link 4 Alesh MB, Keti DB, Kısaarslan AP, Muhtaroğlu S, Taşkın SN. Hidden threat in familial Mediterranean fever: subclinical inflammation, oxidative stress and their relationship with vitamin D status. Turkish journal of medical sciences 2022. link 5 Lacout C, Savey L, Bourguiba R, Giurgea I, Amselem S, Hoyeau N et al.. "Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france". Helicobacter 2021. link 6 Kocyigit BF, Akyol A. Bibliometric analysis of publication activity in the field of familial Mediterranean fever in 2010-2019: a Scopus-based study. Rheumatology international 2021. link 7 Maggio MC, Ceccherini I, Grossi A, Gattorno M, Corsello G. PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report. Italian journal of pediatrics 2019. link 8 Turhan T, Doğan HO, Boğdaycioğlu N, Eyerci N, Omma A, Sari İ et al.. Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever. Bosnian journal of basic medical sciences 2018. link 9 Cohen O, Locketz G, Hershko AY, Gorshtein A, Levy Y. Colchicine-clarithromycin-induced rhabdomyolysis in Familial Mediterranean Fever patients under treatment for Helicobacter pylori. Rheumatology international 2015. link 10 Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S et al.. Evaluation of disease severity in familial Mediterranean fever. Seminars in arthritis and rheumatism 2005. link 11 Braun E, Schapira D, Guralnik L, Azzam ZS. Acute vasculitis with multiorgan involvement in a patient with familial Mediterranean fever. The American journal of the medical sciences 2003. link 12 Ben-Chetrit E, Levy M. Colchicine: 1998 update. Seminars in arthritis and rheumatism 1998. link80028-0) 13 Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T et al.. Criteria for the diagnosis of familial Mediterranean fever. Arthritis and rheumatism 1997. link 14 Moskovitz B, Bolkier M, Nativ O. Acute orchitis in recurrent polyserositis. Journal of pediatric surgery 1995. link90428-x) 15 Knockaert DC, Malysse IG, Peetermans WE. Ankylosing spondylitis. An unusual manifestation of familial Mediterranean fever. Report of a case complicated by amyloidosis and polyneuropathy. Clinical rheumatology 1989. link

    Original source

    1. [1]
    2. [2]
      The effect of tonsillectomy on clinical manifestations in Familial Mediterranean fever.Ibrahim AA, Alsayed AA, Mahmoud MA, Attalla Hassan AH, Hamdan AM International journal of pediatric otorhinolaryngology (2025)
    3. [3]
    4. [4]
      Hidden threat in familial Mediterranean fever: subclinical inflammation, oxidative stress and their relationship with vitamin D status.Alesh MB, Keti DB, Kısaarslan AP, Muhtaroğlu S, Taşkın SN Turkish journal of medical sciences (2022)
    5. [5]
      "Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france".Lacout C, Savey L, Bourguiba R, Giurgea I, Amselem S, Hoyeau N et al. Helicobacter (2021)
    6. [6]
    7. [7]
      PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.Maggio MC, Ceccherini I, Grossi A, Gattorno M, Corsello G Italian journal of pediatrics (2019)
    8. [8]
      Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever.Turhan T, Doğan HO, Boğdaycioğlu N, Eyerci N, Omma A, Sari İ et al. Bosnian journal of basic medical sciences (2018)
    9. [9]
      Colchicine-clarithromycin-induced rhabdomyolysis in Familial Mediterranean Fever patients under treatment for Helicobacter pylori.Cohen O, Locketz G, Hershko AY, Gorshtein A, Levy Y Rheumatology international (2015)
    10. [10]
      Evaluation of disease severity in familial Mediterranean fever.Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S et al. Seminars in arthritis and rheumatism (2005)
    11. [11]
      Acute vasculitis with multiorgan involvement in a patient with familial Mediterranean fever.Braun E, Schapira D, Guralnik L, Azzam ZS The American journal of the medical sciences (2003)
    12. [12]
      Colchicine: 1998 update.Ben-Chetrit E, Levy M Seminars in arthritis and rheumatism (1998)
    13. [13]
      Criteria for the diagnosis of familial Mediterranean fever.Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T et al. Arthritis and rheumatism (1997)
    14. [14]
      Acute orchitis in recurrent polyserositis.Moskovitz B, Bolkier M, Nativ O Journal of pediatric surgery (1995)
    15. [15]

    HemoChat

    by SPINAI

    Evidence-based clinical decision support powered by SNOMED-CT, Neo4j GraphRAG, and NASS/AO/NICE guidelines.

    ⚕ For clinical reference only. Not a substitute for professional judgment.

    © 2026 HemoChat. All rights reserved.
    Research·Pricing·Privacy & Terms·Refund·SNOMED-CT · NASS · AO Spine · NICE · GraphRAG