| disease | Benign Paroxysmal Peritonitis Syndrome |
| alias | Familial Mediterranean Fever Syndrome, Hereditary Familial Amyloidosis, Familial Mediterranean Fever Syndrome, Seigal-Cattan-Mamon Syndrome |
Benign Paroxysmal Peritonitis Syndrome, also known as Familial Mediterranean Fever Syndrome, hereditary familial amyloidosis, or Seigal-Cattan-Mamon Syndrome. This disease is commonly found in Mediterranean coastal regions, such as among Jews and Arabs in Spain and Portugal. It predominantly affects adolescents, with males more frequently affected than females. While children can also develop the condition, it is less common compared to adults.
bubble_chart Etiology
The etiology of this disease is unknown, and it may be a familial autosomal recessive genetic disorder, representing a type of amyloidosis.
bubble_chart Pathological Changes
Congestion and edema of the abdominal membrane, with scattered deposition of fibrin-like material or amyloid protein, may be accompanied by a small amount of exudate containing serofibrin, neutrophils, and lymphocytes. Meanwhile, amyloid protein deposition may also occur in other organs throughout the body, such as the liver, spleen, kidneys, heart, and lungs.
bubble_chart Clinical Manifestations
The main symptoms include paroxysmal fever or irregular fever, abdominal pain, abdominal distension and fullness, which can be diffuse or localized to a specific area, often accompanied by chest pain, arthralgia, and neurological dysfunction. The episodes are mostly intermittent and periodic, with symptoms completely resolving during the intervals. Female patients often experience episodes during menstruation. Physical examination findings include abdominal tenderness, hepatomegaly, and positive signs of ascites.
bubble_chart Auxiliary Examination
1. During the stage of attack, white blood cells are often elevated, erythrocyte sedimentation rate increases, and α2
globulin rises. Urine protein is positive, and there may be cast urine.2. When the liver is involved, there may be grade I liver function abnormalities.
3. Pleural ascites examination shows serofibrinous characteristics.
4. Congo red test: After intravenous injection of 1% Congo red solution at 0.22ml/kg body weight, 10ml of venous blood is drawn at 4 minutes and 1 hour for colorimetric analysis, showing a significant decrease in the percentage of dye retained in the serum. Pathological biopsy reveals amyloid protein deposition.
In the Mediterranean region, the presence of paroxysmal intermittent fever, abdominal pain, chest pain, arthralgia, and manifestations of multiple serositis, combined with a family history, should raise suspicion for this disease. Since amyloid substances rapidly absorb Congo red, a Congo red test can be performed. A definitive diagnosis can be made through biopsy showing amyloid protein deposition.
bubble_chart Treatment Measures
In treatment, colchicine can be used to reduce the frequency of attacks. During an attack, the daily dose is 1.2–1.8 mg/kg, diluted and administered via slow intravenous injection in 2–3 divided doses. After the attacks decrease, the daily maintenance dose is 0.6 mg/kg of body weight, followed by long-term prophylactic treatment (2–3 years). Due to side effects such as teratogenicity, bone marrow suppression, and azoospermia, caution is advised, and some believe it should only be used in patients with significantly limited mobility. Additionally, there are reports of using dimethyl sulfoxide (DMSO). To alleviate symptoms during an attack, corticosteroids may also be tried. Furthermore, supportive care should be strengthened.
Accompanied by urticaria, polyneuritis, and polyserositis.
