Clinical Guidance
To date, more than 175 individuals from more than 90 families have been identified with prolidase deficiency, as recently reviewed by and . The following description of the phenotypic features associated with this condition is based on these reviews. Note: A minority of individuals (n=5) have remained asymptomatic, despite biochemical or molecular confirmation of prolidase deficiency [, , , , ]. However, limited long-term information is available on these individuals; the oldest asymptomatic individual was 29 years old at the time of report. Table 2. Prolidase Deficiency: Frequency of Select Features
Feature | % of Personsw/Feature | Comment |
|---|
Dysmorphic facial features | 66% | — |
Skin ulcers | 62% | Most commonly affecting lower extremities, particularly feet |
ID/DD | 58% | IQ ranging from 30 to 901 in those who have undergone IQ testing (n=18) |
Recurrent infections | 48% | Commonly sinopulmonary infections or gastroenteritis |
Organomegaly | 45% | Mostly splenomegaly, rarely (14%) accompanied by hepatomegaly |
Skeletal findings | 34% | Incl hand/feet (14%) other limb (6%) abnormalities, osteopenia (7%), joint hypermobility (7%), or arthritis (5%) |
Anemia | 30% | — |
Thrombocytopenia | 18% | — |
Chronic pulmonary disease | 12% | Excl asthma (7%) |
Autoimmune disease | 12% | Incl SLE or SLE-like features, rhupus,2 autoimmune GI disease or arthritis |
Hypergammaglobulinemia | 15% | Incl hyper IgG hyper IgE DD = developmental delay; GI = gastrointestinal; ID = intellectual disability; IgG = immunoglobulin G; IgE = immunoglobulin E; SLE = systemic lupus erythematosus The formal medical definition of intellectual disability is an IQ score lower than 70. |
Source: GeneReviews — "Prolidase Deficiency"
