Porphyria in Switzerland, 15 years experience.

[erythropoietic protoporphyria]

The porphyrias , a group of seven metabolic disorders in the haem biosynthesis , can be classified into acute and non-acute porphyrias . A common symptom of acute porphyrias is severe acute abdominal pain , whereas cutaneous photosensitivity can occur in both acute and non-acute porphyrias . All porphyrias , except for sporadic porphyria cutanea tarda (sPCT ), are hereditary disorders caused by mutations in the respective genes . We present porphyria cases documented in our porphyria centre during the past 15 years .Diagnosis was based on clinical symptoms and biochemical analyses . Mutation analysis was performed in patients /families with a confirmed hereditary porphyria .As the porphyria specialist centre of Switzerland , we perform the specialized analyses required for the diagnosis of all types of porphyrias , and give advice to patients , physicians and other laboratories . We therefore estimated that our data cover 80 -90 % of all diagnosed Swiss cases . A total of 217 patients from 170 families were diagnosed including , 111 acute intermittent porphyria , 45 erythropoietic protoporphyria , 30 variegate porphyria , 21 sPCT , five congenital erythropoietic porphyria , four hereditary coproporphyria and one hepatoerythropoietic porphyria patient . Systematic monitoring of the patients would allow early detection of the potential life-threatening complications such as hepatocellular carcinoma and renal insufficiency in acute porphyrias , and liver failure in EPP . Seventy -five percent of all families underwent genetic testing . Identification of pre-symptomatic mutation carriers so that these individuals and their physicians can be consulted with safety on drug use and other preventive measures , is important in managing acute porphyrias . The unique phenomenon of founder mutations in the Swiss population is also discussed .

Diseases
Validation

Diseases presenting "abdominal pain" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital diaphragmatic hernia

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

This symptom has already been validated