Clinical, laboratory, and radiologic findings in IPSID
Symptoms and signs . | Patients affected, % . |
|---|---|
| Abdominal pain | 80-100 |
| Diarrhea | 70-100 |
| Weight loss | 90-100 |
| Vomiting | |
| Early stage | 10 |
| Advanced stage | 30 |
| Low-grade fever | 30-50 |
| Abdominal masses | |
| Early stage | 20 |
| Advanced stage | 60 |
| Clubbing of fingers | 20-60 |
| Hepatomegaly, splenomegaly, or peripheral lymphadenopathy | 3-5* |
| Laboratory findings | |
| α heavy chain protein† | 40-100 |
| Low serum immunoglobulins and albumin | Common‡ |
| High alkaline phosphatase (intestinal isoenzyme) | Common‡ |
| Sugar and fat malabsorption | 60-80 |
| Hypocalcemia and hypomagnesemia | Common‡ |
| Mild to moderate anemia | 30-50 |
| Parasitic infestations, especially giardiasis | Very common‡ |
| Radiologic findings (barium) | |
| Malabsorption pattern, edema, and “postage-stamp appearance” of duodenal folds | Common early stage‡ |
| Multiple filling defects, ulceration, strictures, and enlarged mesenteric lymph nodes by CT scan | Common advanced stage‡ |
Symptoms and signs . | Patients affected, % . |
|---|---|
| Abdominal pain | 80-100 |
| Diarrhea | 70-100 |
| Weight loss | 90-100 |
| Vomiting | |
| Early stage | 10 |
| Advanced stage | 30 |
| Low-grade fever | 30-50 |
| Abdominal masses | |
| Early stage | 20 |
| Advanced stage | 60 |
| Clubbing of fingers | 20-60 |
| Hepatomegaly, splenomegaly, or peripheral lymphadenopathy | 3-5* |
| Laboratory findings | |
| α heavy chain protein† | 40-100 |
| Low serum immunoglobulins and albumin | Common‡ |
| High alkaline phosphatase (intestinal isoenzyme) | Common‡ |
| Sugar and fat malabsorption | 60-80 |
| Hypocalcemia and hypomagnesemia | Common‡ |
| Mild to moderate anemia | 30-50 |
| Parasitic infestations, especially giardiasis | Very common‡ |
| Radiologic findings (barium) | |
| Malabsorption pattern, edema, and “postage-stamp appearance” of duodenal folds | Common early stage‡ |
| Multiple filling defects, ulceration, strictures, and enlarged mesenteric lymph nodes by CT scan | Common advanced stage‡ |
Sources: Al-Saleem and Zardawi2 ; Ramot et al3 ; Bull4; Rambaud et al14 ; Fine and Stone18 ; Gilinsky et al20 ; Al-Bahranii et al22 ; Vassal et al23 ; Ramos et al.24
CT indicated computed tomography.
Rare except in very advanced disease
See “α Heavy chain protein: diagnosis, structure, synthesis, and secretion”
Exact numbers are not available