see also: [[Systemic rheumatic diseases]] see: [Hayes - Familial Mediterranean Fever](x-devonthink-item://38F29528-EC8B-4672-9C2B-EC8F024EE98F), [Dunn - other autoimmune inflammatory diseases](x-devonthink-item://6CFB0627-25E4-4ACA-AF2C-8956D95D59B7), [Harrisons - Familial mediterranean fever and other hereditary autoinflammatory diseases](x-devonthink-item://D7D7DEE3-8F19-43B8-9F8B-9722C906DAB6?page=2880) ## Overview - Autoimmune inflammatory disease caused by mediterranean fever (MEFV) gene - Often occurs in patients with mediterranean ancestry - other names: various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease - "periodic fever" can also refer to any of the [periodic fever syndromes](https://en.wikipedia.org/wiki/Periodic_fever_syndrome "Periodic fever syndrome"). ## Attacks Attacks develop over a few hours, can last from hours to days. Most involve **fever**. 1. Abdominal attacks -- abdo pain, peritonism, can mimic appendicitis or ovarian torsion. Occur in 95 percent of all patients and can lead to laparoscopies 2. Joint attacks -- mostly large joints, especially in the legs. Usually, only one joint is affected. 3. Chest attacks -- pleuritis, [[Pericarditis]] (rare). 4. [[Scrotal pain|Scrotal]] attacks due to inflammation of the tunica vaginalis, rare but can be mistaken for testicular torsion 5. myalgia (usually with other symptoms) 6. Erysipeloid rashes (a skin reaction on the legs that can mimic cellulitis; rare in isolation) ## Diagnosis **Tel-Hashomer** clinical criteria[^1]: Diagnosis requires ≥ 1 major criterion _or_ ≥ 2 minor criteria. ## Complications 1. Amyloidosis can occur in the long term. 2. Before the institution of colchicine therapy, mortality due to nephrotic syndrome by the age of 50 years was high. 3. Small number of patients may develop persistent pattern of arthritis, similar to spondyloarthropathy 4. Female infertility is common ## Management [[colchicine]] is effective in both reducing the attack frequency and protecting against the development of amyloidosis, which is the main complication. Colchicine dose generally *0.5mg BD* increased up to 1.5mg BD (discuss with rheum of course)[^2]. - Common side effects of colchicine include bloating, abdo cramps, lactose intolerance, and diarrhoea. Minimised by starting a low dose and gradually increasing + avoiding dairy. - If taken by either parent at the time of **conception**, colchicine may cause a small increase in the risk of Down’s syndrome. - Colchicine is usually *continued during pregnancy*, because the risk of miscarriage due to FMF attacks is thought to outweigh any effect of colchicine on foetal development. [^1]: [Criteria for diagnosis of Familial Mediterranean Fever](https://pubmed.ncbi.nlm.nih.gov/9336425/) (1997) [^2]: Harrison's says 1.2-1.8mg/day for adults.