Familial mediterranean fever differential diagnosis

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Differential diagnosis

Familial mediterranean fever (FMF) should be differentiated from other conditions presenting with fever, fatigue, weight loss, arthralgia, myalgia, rash and soft tissue swelling. The differentials include the following:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]

Category of Disease Diseases Signs and symptoms Laboratory findings
Fever Fatigue Arthralgia Myalgia Soft tissue swelling/serositis Skin rash Weight loss Dyspnea Sore throat Lymphadenopathy Complete blood count (CBC) Liver function tests (LFTs)

Inflammatory markers

Autoantibodies

Diagnostic tests

Erythrocyte sedimentation rate (ESR) C- reactive protein (CRP) Anti-nuclear antibodies (ANA) Rheumatoid factor (RF) Anti- glomerular basement membrane (anti-GBM) Anti-dsDNA Anti-Jo1/ Anti Mi2 ANCA

Infections

 HIV + + + + +/- - + +/- + /- + - - - - - -
 Herpesviridae + + + + + - - +/- + - - - - - - -
 Measles + + + + - - - + + - - - - - - -
 Viral hepatitis + + - +/- - - +/- - - +/- - - - - - -
 Parvovirus B19 + + + +/- -
  • Slapped cheek rash
- - - + - - - - - -
Infective endocarditis + + + +/- - +/- + - + - - - - - - - Blood cultures, ultrasonography
Borreliosis, Brucellosis, Yersiniosis + + + + - - - - + - - - - - - Serology, PCR
Syphilis and Jarisch-Herxheimer reaction + + + + - - - + +
  • ALT (Uncommon)
  • AST (Uncommon)
- - - - - - Serology, PCR
Toxoplasmosis + + - + - - - + + - - - - - - Serology, PCR

Neoplasia

Malignant lymphoma + + - +/- +/- + + - + - - - - - - CT, PET/CT, Bone marrow examination, lymph node biopsy
Multicentric Castleman disease + + - - + - + + - + - - - - - - - Lymph node biopsy
Angioimmunoblastic T cell lymphoma + + - - - + - - + - - - - - - Lymph node biopsy

Drug hypersensitivity

Drug reaction with eosinophilia and systemic symptoms + + + + +/- - + - - - - - - - - - Eosinophil count, skin biopsy
Autoimmune conditions Systemic lupus erythematosus + + + +/- + + + - +/- + + - + - - Antinuclear autoantibodies
Inflammatory myositis + + - + (weakness > pain) -
  • Macular red rash over the back of the fingers, elbows or knees (Grotton's sign)
  • Macular purpish or reddish rash on the upper chest or back  (Shawl-like, heliotrope rash)
- - - +/- - +/- +/- - - + - Idem, muscle biopsy
Rheumatoid arthritis + + + - + - + - + - +/- +/- - - - - Anti-citrullinated peptids autoantibodies, rheumatoid factor
Systemic vasculitides + + + - + - +/- - +/- - - - +/- - - + ANCA, tissue biopsy, arteriography
Familial Mediterranean fever + + + + + + + (due to pain) - +/- - - - - - - - Familial history, MEFV gene analysis
Mevalonate kinase deficiency + + + + - + - + + - - - - - - - Urinary mevalonic acid, mevalonate kinase analysis
Reactive arthritis + + + - - - + (Aortic insufficiency) - + - - - - - - - HLA B27, magnetic resonance imaging

Miscellaneous

Sarcoidosis + + + - + + + - +
  • Normal ALT, AST
  • ALP ↑ (infiltrative pattern)
- - - - - -
  • Lymph node/Lung biopsy
  • ACE levels
  • FDG-PET

Less common differentials

FMF must be differentiated from other causes of secondary peritonitis

Differentiating FMF from other causes of peritonitis
Disease Prominent clinical findings Lab tests Tratment
Primary peritonitis Spontaneous bacterial peritonitis
Tuberculous peritonitis
Continuous Ambulatory Peritoneal Dialysis (CAPD peritonitis)
Secondary peritonitis Acute bacterial secondary peritonitis
Biliary peritonitis
Tertiary peritonitis
Familial Mediterranean fever (periodic peritonitis, familial paroxysmal polyserositis)
  • Colchicine prevents but does not treat acute attacks.
Granulomatous peritonitis
  • Diagnosed by the demonstration of diagnostic Maltese cross pattern of starch particles.
Sclerosing encapsulating peritonitis
Intraperitoneal abscesses
  • Diagnosed best by CT scan of the abdomen.
  • Treatment consists of prompt and complete CT or US guided drainage of the abscess, control of the primary cause, and adjunctive use of effective antibiotics. Open drainage is reserved for abscesses for which percutaneous drainage is inappropriate or unsuccessful.
Peritoneal mesothelioma
peritoneal carcinomatosis
Classification of acute abdomen based on etiology Presentation Symptoms Signs Diagnosis Comments
Fever Abdominal Pain Jaundice Guarding Rebound Tenderness Bowel sounds Lab Findings Imaging
Common causes of Peritonitis Primary Peritonitis Spontaneous bacterial peritonitis + Diffuse - - - Hypoactive
  • Ascitic fluid PMN>250 cells/mm³
  • Culture: Positive for single organism
Ultrasound for evaluation of liver cirrhosis -
Secondary Peritonitis Perforated gastric and duodenal ulcer + Diffuse - + + N
    • Glucose < 50mg/dl
    • Total protein > 1g/dl
Air under diaphragm in upright CXR Upper GI endoscopy for diagnosis
Acute cholangitis + RUQ + - - N Abnormal LFT Ultrasound shows biliary dilatation Biliary drainage (ERCP) + IV antibiotics
Acute cholecystitis + RUQ + - - Hypoactive Ultrasound shows gallstone and evidence of inflammation Murphy’s sign
Acute pancreatitis + Epigastric +/- - - N Increased amylase / lipase Ultrasound shows evidence of inflammation Pain radiation to back
Acute appendicitis + RLQ - + + Hypoactive Leukocytosis Ultrasound shows evidence of inflammation Nausea & vomiting, decreased appetite
Acute diverticulitis + LLQ +/- + - Hypoactive Leukocytosis CT scan and ultrasound shows evidence of inflammation
Acute salpingitis + LLQ/ RLQ - +/- +/- N Leukocytosis Pelvic ultrasound Vaginal discharge
Hollow Viscous Obstruction Small intestine obstruction - Diffuse - + +/- Hyperactive then absent Leukocytosis Abdominal X ray Nausea & vomiting associated with constipation, abdominal distention
Volvulus - Diffuse - + - Hypoactive Leukocytosis CT scan and abdominal X ray Nausea & vomiting associated with constipation, abdominal distention
Biliary colic - RUQ + - - N Increased bilirubin and alkaline phosphatase Ultrasound Nausea & vomiting
Renal colic - Flank pain - - - N Hematuria CT scan and ultrasound Colicky abdominal pain associated with nausea & vomiting
Vascular Disorders Ischemic causes Mesenteric ischemia +/- Periumbilical - - - Hyperactive Leukocytosis and lactic acidosis CT scan Nausea & vomiting, normal physical examination
Acute ischemic colitis +/- Diffuse - + + Hyperactive then absent Leukocytosis CT scan Nausea & vomiting
Hemorrhagic causes Ruptured abdominal aortic aneurysm - Diffuse - - - N Normal CT scan Unstable hemodynamics
Intra-abdominal or retroperitoneal hemorrhage - Diffuse - - - N Anemia CT scan History of trauma
Gynaecological Causes Ovarian Cyst Complications Torsion of the cyst - RLQ / LLQ - +/- +/- N Increased ESR and CRP Ultrasound Sudden onset sever pain with nausea and vomiting
Cyst rupture - RLQ / LLQ - +/- +/- N Increased ESR and CRP Ultrasound Sudden onset sever pain with nausea and vomiting
Pregnancy Ruptured ectopic pregnancy - RLQ / LLQ - - - N Positive pregnancy test Ultrasound History of missed period and vaginal bleeding

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